Canonical Allele Identifier: CA5576786
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs778985074
ExAC: 10:82040032 C / T
gnomAD v2: 10-82040032-C-T
gnomAD v4: 10-80280276-C-T
MyVariant Identifiers: chr10:g.82040032C>T (hg19) chr10:g.80280276C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280276C>T , CM000672.2:g.80280276C>T GRCh38
NC_000010.10:g.82040032C>T , CM000672.1:g.82040032C>T GRCh37
NC_000010.9:g.82030012C>T NCBI36
NG_008083.1:g.14403G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.446G>A MANE Select ENSP00000361287.3:p.Cys149Tyr
ENST00000372213.7:c.446G>A ENSP00000361287.3:p.Cys149Tyr
ENST00000455001.1:c.257G>A ENSP00000414961.1:p.Cys86Tyr
NM_000429.2:c.446G>A NP_000420.1:p.Cys149Tyr
XM_005269842.3:c.446G>A XP_005269899.1:p.Cys149Tyr
XM_005269843.3:c.323G>A XP_005269900.1:p.Cys108Tyr
NM_000429.3:c.446G>A MANE Select NP_000420.1:p.Cys149Tyr
Search 100 bp 5'
Search 100 bp 3'