LDH info

Canonical Allele Identifier: CA16605940
Gene: MAT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 378112
ClinVar RCV Id: RCV000433867
dbSNP Id: rs913435613

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276381G>A , CM000672.2:g.80276381G>A GRCh38
NC_000010.10:g.82036137G>A , CM000672.1:g.82036137G>A GRCh37
NC_000010.9:g.82026117G>A NCBI36
NG_008083.1:g.18298C>T

Transcript Alleles

HGVS Amino-acid change
NM_000429.2:c.763C>T VV NP_000420.1:p.Pro255Ser
XM_005269842.3:c.763C>T XP_005269899.1:p.Pro255Ser
XM_005269843.3:c.640C>T XP_005269900.1:p.Pro214Ser
NM_000429.3:c.763C>T VV MANE Preferred NP_000420.1:p.Pro255Ser
ENST00000372213.7:c.763C>T ENSP00000361287.3:p.Pro255Ser