Canonical Allele Identifier: CA352791294

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49459674A>G (hg19) ; chr3:g.49422241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422241A>G , CM000665.2:g.49422241A>G	GRCh38
NC_000003.11:g.49459674A>G , CM000665.1:g.49459674A>G	GRCh37
NC_000003.10:g.49434678A>G	NCBI36
NG_015986.1:g.5438T>C , LRG_537:g.5438T>C
NG_033046.1:g.12084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.121T>C MANE Select	ENSP00000273588.3:p.Phe41Leu
ENST00000395338.7:c.121T>C	ENSP00000378747.2:p.Phe41Leu
ENST00000399379.7:c.60+120T>C	ENSP00000399943.2:n.60+120T>C
ENST00000427987.6:c.-24T>C	ENSP00000403821.2:n.-24T>C
ENST00000430521.2:c.90+120T>C	ENSP00000388068.2:n.90+120T>C
ENST00000462048.2:c.-101-192T>C	ENSP00000490465.1:n.-101-192T>C
ENST00000465925.6:n.140T>C
ENST00000473163.2:n.223T>C
ENST00000476226.6:n.120T>C
ENST00000478594.6:n.126T>C
ENST00000480957.6:n.139T>C
ENST00000485108.6:n.251T>C
ENST00000487589.6:n.34T>C
ENST00000491800.3:n.232T>C
ENST00000493046.6:n.218T>C
ENST00000538581.6:c.-24T>C	ENSP00000443200.2:n.-24T>C
ENST00000635772.1:n.125T>C
ENST00000635808.1:c.121T>C	ENSP00000489620.1:p.Phe41Leu
ENST00000635889.1:n.130T>C
ENST00000635936.1:n.113T>C
ENST00000636023.1:c.121T>C	ENSP00000489969.1:p.Phe41Leu
ENST00000636070.1:c.90+120T>C	ENSP00000490160.1:n.90+120T>C
ENST00000636148.1:n.191T>C
ENST00000636166.1:c.496-669T>C	ENSP00000490106.1:n.496-669T>C
ENST00000636199.1:c.121T>C	ENSP00000490871.1:p.Phe41Leu
ENST00000636204.1:n.1403T>C
ENST00000636461.1:c.3233T>C
ENST00000636522.1:c.90+120T>C	ENSP00000489758.1:n.90+120T>C
ENST00000636587.1:n.353T>C
ENST00000636597.1:c.121T>C	ENSP00000490251.1:p.Phe41Leu
ENST00000636725.1:n.111T>C
ENST00000636803.1:n.111T>C
ENST00000636865.1:c.-24T>C	ENSP00000490601.1:n.-24T>C
ENST00000636871.1:n.64T>C
ENST00000636978.1:n.125T>C
ENST00000636991.1:n.144T>C
ENST00000637088.1:n.3676T>C
ENST00000637114.1:n.113T>C
ENST00000637268.1:n.126T>C
ENST00000637291.1:n.129T>C
ENST00000637442.1:n.1616T>C
ENST00000637457.1:n.148T>C
ENST00000637682.1:c.121T>C	ENSP00000489856.1:p.Phe41Leu
ENST00000637684.1:n.223T>C
ENST00000637821.1:c.90+120T>C	ENSP00000490482.1:n.90+120T>C
ENST00000637914.1:n.140T>C
ENST00000637982.1:n.113T>C
ENST00000637994.1:n.131T>C
ENST00000638014.1:c.2902T>C
ENST00000638063.1:c.121T>C	ENSP00000489760.1:p.Phe41Leu
ENST00000638079.1:c.*637T>C	ENSP00000490120.1:n.*637T>C
ENST00000638092.1:n.111T>C
ENST00000638115.1:c.*1882T>C	ENSP00000490296.1:n.*1882T>C
ENST00000273588.7:c.121T>C	ENSP00000273588.3:p.Phe41Leu
ENST00000395338.6:c.121T>C	ENSP00000378747.2:p.Phe41Leu
ENST00000399379.6:c.90+120T>C	ENSP00000399943.1:n.90+120T>C
ENST00000427987.5:c.113T>C
ENST00000430521.1:c.90+120T>C	ENSP00000388068.1:n.90+120T>C
ENST00000458307.6:c.121T>C	ENSP00000415619.2:p.Phe41Leu
ENST00000462048.1:n.248-192T>C
ENST00000476226.5:n.186T>C
ENST00000478594.5:n.115T>C
ENST00000480957.5:n.129T>C
ENST00000485108.5:n.115T>C
ENST00000487589.5:n.223T>C
ENST00000493046.5:n.91+120T>C
ENST00000495436.5:n.211T>C
ENST00000498571.1:n.119T>C
ENST00000538581.5:c.90+120T>C	ENSP00000443200.1:n.90+120T>C
NM_000481.3:c.121T>C , LRG_537t1:c.121T>C	NP_000472.2:p.Phe41Leu
NM_001164710.1:c.121T>C	NP_001158182.1:p.Phe41Leu
NM_001164711.1:c.90+120T>C	NP_001158183.1:n.90+120T>C
NM_001164712.1:c.121T>C	NP_001158184.1:p.Phe41Leu
NR_028435.1:n.335T>C
NM_000481.4:c.121T>C MANE Select	NP_000472.2:p.Phe41Leu
NM_001164710.2:c.121T>C	NP_001158182.1:p.Phe41Leu
NM_001164711.2:c.90+120T>C	NP_001158183.1:n.90+120T>C
NM_001164712.2:c.121T>C	NP_001158184.1:p.Phe41Leu
NR_028435.2:n.130T>C