Canonical Allele Identifier: CA2609913204
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80274904-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274904A>T , CM000672.2:g.80274904A>T GRCh38
NC_000010.10:g.82034660A>T , CM000672.1:g.82034660A>T GRCh37
NC_000010.9:g.82024640A>T NCBI36
NG_008083.1:g.19775T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.951+113T>A MANE Select ENSP00000361287.3:n.951+113T>A
ENST00000372213.7:c.951+113T>A ENSP00000361287.3:n.951+113T>A
ENST00000480845.1:n.183+113T>A
ENST00000485270.5:n.463+113T>A
NM_000429.2:c.951+113T>A NP_000420.1:n.951+113T>A
XM_005269842.3:c.951+113T>A XP_005269899.1:n.951+113T>A
XM_005269843.3:c.828+113T>A XP_005269900.1:n.828+113T>A
NM_000429.3:c.951+113T>A MANE Select NP_000420.1:n.951+113T>A
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