Canonical Allele Identifier: CA377361573
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 658943
ClinVar RCV Id: RCV000815866
dbSNP Id: rs1589480590
gnomAD v3: 10-80276387-C-T
gnomAD v4: 10-80276387-C-T
MyVariant Identifiers: chr10:g.82036143C>T (hg19) chr10:g.80276387C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276387C>T , CM000672.2:g.80276387C>T GRCh38
NC_000010.10:g.82036143C>T , CM000672.1:g.82036143C>T GRCh37
NC_000010.9:g.82026123C>T NCBI36
NG_008083.1:g.18292G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.757G>A MANE Select ENSP00000361287.3:p.Gly253Arg
ENST00000372213.7:c.757G>A ENSP00000361287.3:p.Gly253Arg
NM_000429.2:c.757G>A NP_000420.1:p.Gly253Arg
XM_005269842.3:c.757G>A XP_005269899.1:p.Gly253Arg
XM_005269843.3:c.634G>A XP_005269900.1:p.Gly212Arg
NM_000429.3:c.757G>A MANE Select NP_000420.1:p.Gly253Arg
Search 100 bp 5'
Search 100 bp 3'