Canonical Allele Identifier: CA352791118

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49459589T>G (hg19) ; chr3:g.49422156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422156T>G , CM000665.2:g.49422156T>G	GRCh38
NC_000003.11:g.49459589T>G , CM000665.1:g.49459589T>G	GRCh37
NC_000003.10:g.49434593T>G	NCBI36
NG_015986.1:g.5523A>C , LRG_537:g.5523A>C
NG_033046.1:g.12169A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000273588.9:c.206A>C MANE Select	ENSP00000273588.3:p.His69Pro
ENST00000395338.7:c.206A>C	ENSP00000378747.2:p.His69Pro
ENST00000399379.7:c.60+205A>C	ENSP00000399943.2:n.60+205A>C
ENST00000427987.6:c.62A>C	ENSP00000403821.2:p.His21Pro
ENST00000430521.2:c.91-107A>C	ENSP00000388068.2:n.91-107A>C
ENST00000462048.2:c.-101-107A>C	ENSP00000490465.1:n.-101-107A>C
ENST00000465925.6:n.225A>C
ENST00000473163.2:n.308A>C
ENST00000476127.6:n.83A>C
ENST00000476226.6:n.205A>C
ENST00000478594.6:n.211A>C
ENST00000480957.6:n.224A>C
ENST00000485108.6:n.336A>C
ENST00000487589.6:n.119A>C
ENST00000491800.3:n.317A>C
ENST00000493046.6:n.303A>C
ENST00000538581.6:c.62A>C	ENSP00000443200.2:p.His21Pro
ENST00000635772.1:n.210A>C
ENST00000635808.1:c.206A>C	ENSP00000489620.1:p.His69Pro
ENST00000635889.1:n.215A>C
ENST00000635936.1:n.198A>C
ENST00000636023.1:c.206A>C	ENSP00000489969.1:p.His69Pro
ENST00000636070.1:c.91-107A>C	ENSP00000490160.1:n.91-107A>C
ENST00000636148.1:n.276A>C
ENST00000636166.1:c.496-584A>C	ENSP00000490106.1:n.496-584A>C
ENST00000636199.1:c.206A>C	ENSP00000490871.1:p.His69Pro
ENST00000636204.1:n.1488A>C
ENST00000636461.1:c.3318A>C
ENST00000636522.1:c.90+205A>C	ENSP00000489758.1:n.90+205A>C
ENST00000636587.1:n.438A>C
ENST00000636597.1:c.206A>C	ENSP00000490251.1:p.His69Pro
ENST00000636725.1:n.196A>C
ENST00000636803.1:n.196A>C
ENST00000636865.1:c.62A>C	ENSP00000490601.1:p.His21Pro
ENST00000636871.1:n.149A>C
ENST00000636978.1:n.210A>C
ENST00000636991.1:n.229A>C
ENST00000637059.1:c.17A>C	ENSP00000490153.1:p.His6Pro
ENST00000637088.1:n.3761A>C
ENST00000637114.1:n.198A>C
ENST00000637268.1:n.211A>C
ENST00000637291.1:n.214A>C
ENST00000637442.1:n.1701A>C
ENST00000637455.1:c.17A>C	ENSP00000489628.1:p.His6Pro
ENST00000637457.1:n.233A>C
ENST00000637682.1:c.206A>C	ENSP00000489856.1:p.His69Pro
ENST00000637684.1:n.308A>C
ENST00000637821.1:c.91-107A>C	ENSP00000490482.1:n.91-107A>C
ENST00000637914.1:n.225A>C
ENST00000637982.1:n.198A>C
ENST00000637994.1:n.216A>C
ENST00000638014.1:c.2987A>C
ENST00000638063.1:c.206A>C	ENSP00000489760.1:p.His69Pro
ENST00000638079.1:c.*722A>C	ENSP00000490120.1:n.*722A>C
ENST00000638092.1:n.196A>C
ENST00000638115.1:c.*1967A>C	ENSP00000490296.1:n.*1967A>C
ENST00000273588.7:c.206A>C	ENSP00000273588.3:p.His69Pro
ENST00000395338.6:c.206A>C	ENSP00000378747.2:p.His69Pro
ENST00000399379.6:c.91-107A>C	ENSP00000399943.1:n.91-107A>C
ENST00000427987.5:c.198A>C
ENST00000430521.1:c.90+205A>C	ENSP00000388068.1:n.90+205A>C
ENST00000458307.6:c.206A>C	ENSP00000415619.2:p.His69Pro
ENST00000462048.1:n.248-107A>C
ENST00000476226.5:n.271A>C
ENST00000478594.5:n.200A>C
ENST00000480957.5:n.214A>C
ENST00000485108.5:n.200A>C
ENST00000487589.5:n.308A>C
ENST00000493046.5:n.92-107A>C
ENST00000495436.5:n.296A>C
ENST00000498571.1:n.204A>C
ENST00000538581.5:c.90+205A>C	ENSP00000443200.1:n.90+205A>C
NM_000481.3:c.206A>C , LRG_537t1:c.206A>C	NP_000472.2:p.His69Pro
NM_001164710.1:c.206A>C	NP_001158182.1:p.His69Pro
NM_001164711.1:c.90+205A>C	NP_001158183.1:n.90+205A>C
NM_001164712.1:c.206A>C	NP_001158184.1:p.His69Pro
NR_028435.1:n.420A>C
NM_000481.4:c.206A>C MANE Select	NP_000472.2:p.His69Pro
NM_001164710.2:c.206A>C	NP_001158182.1:p.His69Pro
NM_001164711.2:c.90+205A>C	NP_001158183.1:n.90+205A>C
NM_001164712.2:c.206A>C	NP_001158184.1:p.His69Pro
NR_028435.2:n.215A>C