Canonical Allele Identifier: CA5576671
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs115455591
ExAC: 10:82034821 C / T
gnomAD v2: 10-82034821-C-T
gnomAD v3: 10-80275065-C-T
gnomAD v4: 10-80275065-C-T
MyVariant Identifiers: chr10:g.82034821C>T (hg19) chr10:g.80275065C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275065C>T , CM000672.2:g.80275065C>T GRCh38
NC_000010.10:g.82034821C>T , CM000672.1:g.82034821C>T GRCh37
NC_000010.9:g.82024801C>T NCBI36
NG_008083.1:g.19614G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.903G>A MANE Select ENSP00000361287.3:p.Val301=
ENST00000372213.7:c.903G>A ENSP00000361287.3:p.Val301=
ENST00000480845.1:n.135G>A
ENST00000485270.5:n.415G>A
NM_000429.2:c.903G>A NP_000420.1:p.Val301=
XM_005269842.3:c.903G>A XP_005269899.1:p.Val301=
XM_005269843.3:c.780G>A XP_005269900.1:p.Val260=
NM_000429.3:c.903G>A MANE Select NP_000420.1:p.Val301=
Search 100 bp 5'
Search 100 bp 3'