Canonical Allele Identifier: CA2609913038
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80275260-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275260T>C , CM000672.2:g.80275260T>C GRCh38
NC_000010.10:g.82035016T>C , CM000672.1:g.82035016T>C GRCh37
NC_000010.9:g.82024996T>C NCBI36
NG_008083.1:g.19419A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.769-61A>G MANE Select ENSP00000361287.3:n.769-61A>G
ENST00000372213.7:c.769-61A>G ENSP00000361287.3:n.769-61A>G
ENST00000485270.5:n.220A>G
NM_000429.2:c.769-61A>G NP_000420.1:n.769-61A>G
XM_005269842.3:c.769-61A>G XP_005269899.1:n.769-61A>G
XM_005269843.3:c.646-61A>G XP_005269900.1:n.646-61A>G
NM_000429.3:c.769-61A>G MANE Select NP_000420.1:n.769-61A>G
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