Canonical Allele Identifier: CA930390569
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs559387768
gnomAD v3: 10-80273478-G-C
gnomAD v4: 10-80273478-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273478G>C , CM000672.2:g.80273478G>C GRCh38
NC_000010.10:g.82033234G>C , CM000672.1:g.82033234G>C GRCh37
NC_000010.9:g.82023214G>C NCBI36
NG_008083.1:g.21201C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*303C>G MANE Select ENSP00000361287.3:n.*303C>G
ENST00000372213.7:c.*303C>G ENSP00000361287.3:n.*303C>G
ENST00000480845.1:n.620+103C>G
ENST00000485270.5:n.1003C>G
NM_000429.2:c.*303C>G NP_000420.1:n.*303C>G
XM_005269842.3:c.*303C>G XP_005269899.1:n.*303C>G
XM_005269843.3:c.*303C>G XP_005269900.1:n.*303C>G
NM_000429.3:c.*303C>G MANE Select NP_000420.1:n.*303C>G
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