LDH info

Canonical Allele Identifier: CA221659
Gene: DHCR7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 93712
dbSNP Id: rs104886035

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71444163G>A , CM000673.2:g.71444163G>A GRCh38
NC_000011.9:g.71155209G>A , CM000673.1:g.71155209G>A GRCh37
NC_000011.8:g.70832857G>A NCBI36
NG_012655.2:g.9269C>T , LRG_340:g.9269C>T

Transcript Alleles

HGVS Amino-acid change
NM_001163817.1:c.151C>T VV NP_001157289.1:p.Pro51Ser
NM_001360.2:c.151C>T , LRG_340t1:c.151C>T NP_001351.2:p.Pro51Ser
XM_011544777.1:c.151C>T XP_011543079.1:p.Pro51Ser
XM_011544777.2:c.151C>T XP_011543079.1:p.Pro51Ser
NM_001163817.2:c.151C>T VV NP_001157289.1:p.Pro51Ser
NM_001360.3:c.151C>T VV MANE Preferred NP_001351.2:p.Pro51Ser
ENST00000355527.7:c.151C>T ENSP00000347717.3:p.Pro51Ser
ENST00000407721.6:c.151C>T ENSP00000384739.2:p.Pro51Ser
ENST00000525346.5:c.151C>T ENSP00000435707.2:p.Pro51Ser
ENST00000526780.5:c.151C>T ENSP00000435668.1:p.Pro51Ser
ENST00000527316.5:c.99-44C>T ENSP00000435047.1:p.=
ENST00000527452.1:c.151C>T ENSP00000436007.1:p.Pro51Ser
ENST00000529990.5:c.91C>T ENSP00000435058.1:p.Pro31Ser
ENST00000531364.5:c.151C>T ENSP00000432589.1:p.Pro51Ser