Canonical Allele Identifier: CA5576578
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs755691897
ExAC: 10:82033519 G / A
gnomAD v2: 10-82033519-G-A
gnomAD v4: 10-80273763-G-A
MyVariant Identifiers: chr10:g.82033519G>A (hg19) chr10:g.80273763G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273763G>A , CM000672.2:g.80273763G>A GRCh38
NC_000010.10:g.82033519G>A , CM000672.1:g.82033519G>A GRCh37
NC_000010.9:g.82023499G>A NCBI36
NG_008083.1:g.20916C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.*18C>T MANE Select ENSP00000361287.3:n.*18C>T
ENST00000372213.7:c.*18C>T ENSP00000361287.3:n.*18C>T
ENST00000480845.1:n.438C>T
ENST00000485270.5:n.718C>T
NM_000429.2:c.*18C>T NP_000420.1:n.*18C>T
XM_005269842.3:c.*18C>T XP_005269899.1:n.*18C>T
XM_005269843.3:c.*18C>T XP_005269900.1:n.*18C>T
NM_000429.3:c.*18C>T MANE Select NP_000420.1:n.*18C>T
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