Canonical Allele Identifier: CA377360746
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1235265597
gnomAD v2: 10-82034876-G-C
gnomAD v3: 10-80275120-G-C
gnomAD v4: 10-80275120-G-C
MyVariant Identifiers: chr10:g.82034876G>C (hg19) chr10:g.80275120G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275120G>C , CM000672.2:g.80275120G>C GRCh38
NC_000010.10:g.82034876G>C , CM000672.1:g.82034876G>C GRCh37
NC_000010.9:g.82024856G>C NCBI36
NG_008083.1:g.19559C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.848C>G MANE Select ENSP00000361287.3:p.Ser283Cys
ENST00000372213.7:c.848C>G ENSP00000361287.3:p.Ser283Cys
ENST00000480845.1:n.80C>G
ENST00000485270.5:n.360C>G
NM_000429.2:c.848C>G NP_000420.1:p.Ser283Cys
XM_005269842.3:c.848C>G XP_005269899.1:p.Ser283Cys
XM_005269843.3:c.725C>G XP_005269900.1:p.Ser242Cys
NM_000429.3:c.848C>G MANE Select NP_000420.1:p.Ser283Cys
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