Canonical Allele Identifier: CA2609912387
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80273423-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273423A>C , CM000672.2:g.80273423A>C GRCh38
NC_000010.10:g.82033179A>C , CM000672.1:g.82033179A>C GRCh37
NC_000010.9:g.82023159A>C NCBI36
NG_008083.1:g.21256T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*358T>G MANE Select ENSP00000361287.3:n.*358T>G
ENST00000372213.7:c.*358T>G ENSP00000361287.3:n.*358T>G
ENST00000480845.1:n.620+158T>G
ENST00000485270.5:n.1058T>G
NM_000429.2:c.*358T>G NP_000420.1:n.*358T>G
XM_005269842.3:c.*358T>G XP_005269899.1:n.*358T>G
XM_005269843.3:c.*358T>G XP_005269900.1:n.*358T>G
NM_000429.3:c.*358T>G MANE Select NP_000420.1:n.*358T>G
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