LDH info

Canonical Allele Identifier: CA351299
Gene: HSD17B3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 242504
ClinVar RCV Id: RCV000198988
dbSNP Id: rs747329682

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96298423G>A , CM000671.2:g.96298423G>A GRCh38
NC_000009.11:g.99060705G>A , CM000671.1:g.99060705G>A GRCh37
NC_000009.10:g.98100526G>A NCBI36
NG_008157.1:g.8730C>T

Transcript Alleles

HGVS Amino-acid change
NM_000197.1:c.194C>T VV NP_000188.1:p.Ser65Leu
XM_006717095.2:c.194C>T XP_006717158.1:p.Ser65Leu
XM_011518618.1:c.194C>T XP_011516920.1:p.Ser65Leu
XM_011518619.1:c.194C>T XP_011516921.1:p.Ser65Leu
XM_011518620.1:c.194C>T XP_011516922.1:p.Ser65Leu
XM_011518621.1:c.194C>T XP_011516923.1:p.Ser65Leu
NM_000197.2:c.194C>T VV MANE Preferred NP_000188.1:p.Ser65Leu
XM_011518618.2:c.194C>T XP_011516920.1:p.Ser65Leu
XM_011518619.2:c.194C>T XP_011516921.1:p.Ser65Leu
XM_017014671.1:c.194C>T XP_016870160.1:p.Ser65Leu
XM_017014672.1:c.194C>T XP_016870161.1:p.Ser65Leu
XM_017014673.2:c.194C>T XP_016870162.1:p.Ser65Leu
XM_017014674.1:c.194C>T XP_016870163.1:p.Ser65Leu
XM_017014675.1:c.108C>T XP_016870164.1:p.Leu36=
XM_017014677.1:c.-743C>T XP_016870166.1:p.=
XM_024447529.1:c.108C>T XP_024303297.1:p.Leu36=
XR_002956778.1:n.2628C>T
ENST00000375262.3:c.194C>T ENSP00000364411.2:p.Ser65Leu
ENST00000375263.7:c.194C>T ENSP00000364412.3:p.Ser65Leu