Canonical Allele Identifier: CA668885401
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1426290880
gnomAD v3: 10-80274992-A-C
gnomAD v4: 10-80274992-A-C
MyVariant Identifiers: chr10:g.82034748A>C (hg19) chr10:g.80274992A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274992A>C , CM000672.2:g.80274992A>C GRCh38
NC_000010.10:g.82034748A>C , CM000672.1:g.82034748A>C GRCh37
NC_000010.9:g.82024728A>C NCBI36
NG_008083.1:g.19687T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.951+25T>G MANE Select ENSP00000361287.3:n.951+25T>G
ENST00000372213.7:c.951+25T>G ENSP00000361287.3:n.951+25T>G
ENST00000480845.1:n.183+25T>G
ENST00000485270.5:n.463+25T>G
NM_000429.2:c.951+25T>G NP_000420.1:n.951+25T>G
XM_005269842.3:c.951+25T>G XP_005269899.1:n.951+25T>G
XM_005269843.3:c.828+25T>G XP_005269900.1:n.828+25T>G
NM_000429.3:c.951+25T>G MANE Select NP_000420.1:n.951+25T>G
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