LDH info

Canonical Allele Identifier: CA16042740
Gene: MAT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372407
dbSNP Id: rs1057517759

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274641T>A , CM000672.2:g.80274641T>A GRCh38
NC_000010.10:g.82034397T>A , CM000672.1:g.82034397T>A GRCh37
NC_000010.9:g.82024377T>A NCBI36
NG_008083.1:g.20038A>T

Transcript Alleles

HGVS Amino-acid change
NM_000429.2:c.964A>T VV NP_000420.1:p.Ile322Phe
XM_005269842.3:c.964A>T XP_005269899.1:p.Ile322Phe
XM_005269843.3:c.841A>T XP_005269900.1:p.Ile281Phe
NM_000429.3:c.964A>T VV MANE Preferred NP_000420.1:p.Ile322Phe
ENST00000372213.7:c.964A>T ENSP00000361287.3:p.Ile322Phe
ENST00000480845.1:n.196A>T
ENST00000485270.5:n.476A>T