LDH info

Canonical Allele Identifier: CA5140241
Gene: HSD17B3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 265484
dbSNP Id: rs144809928

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235548G>A , CM000671.2:g.96235548G>A GRCh38
NC_000009.11:g.98997830G>A , CM000671.1:g.98997830G>A GRCh37
NC_000009.10:g.98037651G>A NCBI36
NG_008157.1:g.71605C>T

Transcript Alleles

HGVS Amino-acid change
NM_000197.1:c.845C>T VV NP_000188.1:p.Pro282Leu
XM_005251970.3:c.485C>T XP_005252027.1:p.Pro162Leu
XM_011518618.1:c.845C>T XP_011516920.1:p.Pro282Leu
XM_011518619.1:c.845C>T XP_011516921.1:p.Pro282Leu
XM_011518620.1:c.737C>T XP_011516922.1:p.Pro246Leu
NM_000197.2:c.845C>T VV MANE Preferred NP_000188.1:p.Pro282Leu
XM_011518618.2:c.845C>T XP_011516920.1:p.Pro282Leu
XM_011518619.2:c.845C>T XP_011516921.1:p.Pro282Leu
XM_017014671.1:c.845C>T XP_016870160.1:p.Pro282Leu
XM_017014672.1:c.845C>T XP_016870161.1:p.Pro282Leu
XM_017014673.2:c.809C>T XP_016870162.1:p.Pro270Leu
XM_017014674.1:c.737C>T XP_016870163.1:p.Pro246Leu
XM_017014675.1:c.683C>T XP_016870164.1:p.Pro228Leu
XM_017014677.1:c.485C>T XP_016870166.1:p.Pro162Leu
XM_024447529.1:c.683C>T XP_024303297.1:p.Pro228Leu
XR_002956778.1:n.3317C>T
ENST00000375262.3:c.695C>T ENSP00000364411.2:p.Pro232Leu
ENST00000375263.7:c.845C>T ENSP00000364412.3:p.Pro282Leu
ENST00000464104.5:n.698C>T
ENST00000467499.5:n.105C>T
ENST00000494814.5:n.404C>T