Canonical Allele Identifier: CA2609913827
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80280125-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80280125T>C , CM000672.2:g.80280125T>C GRCh38
NC_000010.10:g.82039881T>C , CM000672.1:g.82039881T>C GRCh37
NC_000010.9:g.82029861T>C NCBI36
NG_008083.1:g.14554A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.549+48A>G MANE Select ENSP00000361287.3:n.549+48A>G
ENST00000372213.7:c.549+48A>G ENSP00000361287.3:n.549+48A>G
ENST00000455001.1:c.360+48A>G ENSP00000414961.1:n.360+48A>G
NM_000429.2:c.549+48A>G NP_000420.1:n.549+48A>G
XM_005269842.3:c.549+48A>G XP_005269899.1:n.549+48A>G
XM_005269843.3:c.426+48A>G XP_005269900.1:n.426+48A>G
NM_000429.3:c.549+48A>G MANE Select NP_000420.1:n.549+48A>G
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