Canonical Allele Identifier: CA352790036

Gene: AMT

Linked Data

• ClinVar Variation Id: 531772
• ClinVar RCV Id: RCV000638279
• dbSNP Id: rs541594122
• MyVariant Identifiers: chr3:g.49456691A>T (hg19) ; chr3:g.49419258A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49419258A>T , CM000665.2:g.49419258A>T	GRCh38
NC_000003.11:g.49456691A>T , CM000665.1:g.49456691A>T	GRCh37
NC_000003.10:g.49431695A>T	NCBI36
NG_015986.1:g.8421T>A , LRG_537:g.8421T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.696+2T>A MANE Select	ENSP00000273588.3:n.696+2T>A
ENST00000395338.7:c.696+2T>A	ENSP00000378747.2:n.696+2T>A
ENST00000399379.7:c.428+2T>A	ENSP00000399943.2:n.428+2T>A
ENST00000427987.6:c.552+2T>A	ENSP00000403821.2:n.552+2T>A
ENST00000430521.2:c.*498+2T>A	ENSP00000388068.2:n.*498+2T>A
ENST00000465925.6:n.2592T>A
ENST00000473163.2:n.3206T>A
ENST00000476127.6:n.925+2T>A
ENST00000476226.6:n.1117+2T>A
ENST00000476828.2:n.1397T>A
ENST00000478594.6:n.1123+2T>A
ENST00000480957.6:n.2591T>A
ENST00000487589.6:n.609+2T>A
ENST00000491800.3:n.3215T>A
ENST00000493046.6:n.2749+452T>A
ENST00000538581.6:c.552+2T>A	ENSP00000443200.2:n.552+2T>A
ENST00000635772.1:n.1428T>A
ENST00000635798.1:n.391+2T>A
ENST00000635808.1:c.615+2T>A	ENSP00000489620.1:n.615+2T>A
ENST00000635889.1:n.1127+2T>A
ENST00000635907.1:n.591+2T>A
ENST00000635936.1:n.965-107T>A
ENST00000636023.1:c.551-107T>A	ENSP00000489969.1:n.551-107T>A
ENST00000636070.1:c.*476+2T>A	ENSP00000490160.1:n.*476+2T>A
ENST00000636148.1:n.2643T>A
ENST00000636166.1:c.933+2T>A	ENSP00000490106.1:n.933+2T>A
ENST00000636199.1:c.259-107T>A	ENSP00000490871.1:n.259-107T>A
ENST00000636204.1:n.1978+2T>A
ENST00000636461.1:c.4230+2T>A
ENST00000636522.1:c.528+2T>A	ENSP00000489758.1:n.528+2T>A
ENST00000636587.1:n.783-107T>A
ENST00000636597.1:c.550+452T>A	ENSP00000490251.1:n.550+452T>A
ENST00000636725.1:n.1412+2T>A
ENST00000636803.1:n.1038+2T>A
ENST00000636865.1:c.540+2T>A	ENSP00000490601.1:n.540+2T>A
ENST00000636871.1:n.1061+2T>A
ENST00000636978.1:n.702T>A
ENST00000636991.1:n.1141+2T>A
ENST00000637059.1:c.149-107T>A	ENSP00000490153.1:n.149-107T>A
ENST00000637088.1:n.5508+2T>A
ENST00000637114.1:n.690T>A
ENST00000637268.1:n.1429T>A
ENST00000637291.1:n.1430+2T>A
ENST00000637442.1:n.2917+2T>A
ENST00000637455.1:c.507+2T>A	ENSP00000489628.1:n.507+2T>A
ENST00000637457.1:n.1451T>A
ENST00000637682.1:c.696+2T>A	ENSP00000489856.1:n.696+2T>A
ENST00000637684.1:n.800T>A
ENST00000637821.1:c.*900T>A	ENSP00000490482.1:n.*900T>A
ENST00000637914.1:n.2590+2T>A
ENST00000637982.1:n.1110+2T>A
ENST00000637994.1:n.1130T>A
ENST00000638014.1:c.3477+2T>A
ENST00000638063.1:c.615+2T>A	ENSP00000489760.1:n.615+2T>A
ENST00000638079.1:c.*1208+2T>A	ENSP00000490120.1:n.*1208+2T>A
ENST00000638092.1:n.1110T>A
ENST00000638115.1:c.*2457+2T>A	ENSP00000490296.1:n.*2457+2T>A
ENST00000273588.7:c.696+2T>A	ENSP00000273588.3:n.696+2T>A
ENST00000395338.6:c.696+2T>A	ENSP00000378747.2:n.696+2T>A
ENST00000399379.6:c.*476+2T>A	ENSP00000399943.1:n.*476+2T>A
ENST00000427987.5:c.688+2T>A
ENST00000430521.1:c.528+2T>A	ENSP00000388068.1:n.528+2T>A
ENST00000458307.6:c.564+2T>A	ENSP00000415619.2:n.564+2T>A
ENST00000465925.5:n.1888T>A
ENST00000476127.5:n.455+2T>A
ENST00000476226.5:n.761+2T>A
ENST00000491800.2:n.148T>A
ENST00000495436.5:n.654+2T>A
ENST00000538581.5:c.528+2T>A	ENSP00000443200.1:n.528+2T>A
NM_000481.3:c.696+2T>A , LRG_537t1:c.696+2T>A	NP_000472.2:n.696+2T>A
NM_001164710.1:c.564+2T>A	NP_001158182.1:n.564+2T>A
NM_001164711.1:c.528+2T>A	NP_001158183.1:n.528+2T>A
NM_001164712.1:c.696+2T>A	NP_001158184.1:n.696+2T>A
NR_028435.1:n.910+2T>A
NM_000481.4:c.696+2T>A MANE Select	NP_000472.2:n.696+2T>A
NM_001164710.2:c.564+2T>A	NP_001158182.1:n.564+2T>A
NM_001164711.2:c.528+2T>A	NP_001158183.1:n.528+2T>A
NM_001164712.2:c.696+2T>A	NP_001158184.1:n.696+2T>A
NR_028435.2:n.705+2T>A