Canonical Allele Identifier: CA210320351
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs938497163
gnomAD v3: 10-80273440-G-A
gnomAD v4: 10-80273440-G-A
MyVariant Identifiers: chr10:g.82033196G>A (hg19) chr10:g.80273440G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273440G>A , CM000672.2:g.80273440G>A GRCh38
NC_000010.10:g.82033196G>A , CM000672.1:g.82033196G>A GRCh37
NC_000010.9:g.82023176G>A NCBI36
NG_008083.1:g.21239C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*341C>T MANE Select ENSP00000361287.3:n.*341C>T
ENST00000372213.7:c.*341C>T ENSP00000361287.3:n.*341C>T
ENST00000480845.1:n.620+141C>T
ENST00000485270.5:n.1041C>T
NM_000429.2:c.*341C>T NP_000420.1:n.*341C>T
XM_005269842.3:c.*341C>T XP_005269899.1:n.*341C>T
XM_005269843.3:c.*341C>T XP_005269900.1:n.*341C>T
NM_000429.3:c.*341C>T MANE Select NP_000420.1:n.*341C>T
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