Canonical Allele Identifier: CA377360091
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80273820-G-T
MyVariant Identifiers: chr10:g.82033576G>T (hg19) chr10:g.80273820G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273820G>T , CM000672.2:g.80273820G>T GRCh38
NC_000010.10:g.82033576G>T , CM000672.1:g.82033576G>T GRCh37
NC_000010.9:g.82023556G>T NCBI36
NG_008083.1:g.20859C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1149C>A MANE Select ENSP00000361287.3:p.Ser383Arg
ENST00000372213.7:c.1149C>A ENSP00000361287.3:p.Ser383Arg
ENST00000480845.1:n.381C>A
ENST00000485270.5:n.661C>A
NM_000429.2:c.1149C>A NP_000420.1:p.Ser383Arg
XM_005269842.3:c.1149C>A XP_005269899.1:p.Ser383Arg
XM_005269843.3:c.1026C>A XP_005269900.1:p.Ser342Arg
NM_000429.3:c.1149C>A MANE Select NP_000420.1:p.Ser383Arg
Search 100 bp 5'
Search 100 bp 3'