LDH info

Canonical Allele Identifier: CA117116
Gene: HSD17B3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4880
ClinVar RCV Id: RCV000005156
dbSNP Id: rs119481079

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96251482T>C , CM000671.2:g.96251482T>C GRCh38
NC_000009.11:g.99013764T>C , CM000671.1:g.99013764T>C GRCh37
NC_000009.10:g.98053585T>C NCBI36
NG_008157.1:g.55671A>G

Transcript Alleles

HGVS Amino-acid change
NM_000197.1:c.389A>G VV NP_000188.1:p.Asn130Ser
XM_006717095.2:c.389A>G XP_006717158.1:p.Asn130Ser
XM_011518618.1:c.389A>G XP_011516920.1:p.Asn130Ser
XM_011518619.1:c.389A>G XP_011516921.1:p.Asn130Ser
XM_011518620.1:c.281A>G XP_011516922.1:p.Asn94Ser
XM_011518621.1:c.389A>G XP_011516923.1:p.Asn130Ser
XR_930147.1:n.1288+4147T>C
XR_930148.1:n.1288+4147T>C
NM_000197.2:c.389A>G VV MANE Preferred NP_000188.1:p.Asn130Ser
XM_011518618.2:c.389A>G XP_011516920.1:p.Asn130Ser
XM_011518619.2:c.389A>G XP_011516921.1:p.Asn130Ser
XM_017014671.1:c.389A>G XP_016870160.1:p.Asn130Ser
XM_017014672.1:c.389A>G XP_016870161.1:p.Asn130Ser
XM_017014673.2:c.389A>G XP_016870162.1:p.Asn130Ser
XM_017014674.1:c.281A>G XP_016870163.1:p.Asn94Ser
XM_017014675.1:c.227A>G XP_016870164.1:p.Asn76Ser
XM_017014677.1:c.-548A>G XP_016870166.1:p.=
XM_024447529.1:c.227A>G XP_024303297.1:p.Asn76Ser
XR_002956778.1:n.2823A>G
ENST00000375262.3:c.389A>G ENSP00000364411.2:p.Asn130Ser
ENST00000375263.7:c.389A>G ENSP00000364412.3:p.Asn130Ser
ENST00000463517.1:n.146A>G