LDH info

Canonical Allele Identifier: CA5576592
Gene: MAT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 256104
dbSNP Id: rs2993763

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273838G>A , CM000672.2:g.80273838G>A GRCh38
NC_000010.10:g.82033594G>A , CM000672.1:g.82033594G>A GRCh37
NC_000010.9:g.82023574G>A NCBI36
NG_008083.1:g.20841C>T

Transcript Alleles

HGVS Amino-acid change
NM_000429.2:c.1131C>T VV NP_000420.1:p.Tyr377=
XM_005269842.3:c.1131C>T XP_005269899.1:p.Tyr377=
XM_005269843.3:c.1008C>T XP_005269900.1:p.Tyr336=
NM_000429.3:c.1131C>T VV MANE Preferred NP_000420.1:p.Tyr377=
ENST00000372213.7:c.1131C>T ENSP00000361287.3:p.Tyr377=
ENST00000480845.1:n.363C>T
ENST00000485270.5:n.643C>T