LDH info

Canonical Allele Identifier: CA210787
Gene: SERPINC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18034
dbSNP Id: rs121909567

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173914570G>A , CM000663.2:g.173914570G>A GRCh38
NC_000001.10:g.173883708G>A , CM000663.1:g.173883708G>A GRCh37
NC_000001.9:g.172150331G>A NCBI36
NG_012462.1:g.7809C>T , LRG_577:g.7809C>T

Transcript Alleles

HGVS Amino-acid change
NM_000488.3:c.391C>T , LRG_577t1:c.391C>T NP_000479.1:p.Leu131Phe
XM_005245198.2:c.247C>T XP_005245255.1:p.Leu83Phe
NM_001365052.1:c.247C>T VV NP_001351981.1:p.Leu83Phe
NM_000488.4:c.391C>T VV NP_000479.1:p.Leu131Phe
NM_001365052.2:c.247C>T VV NP_001351981.1:p.Leu83Phe
NM_001386302.1:c.391C>T VV NP_001373231.1:p.Leu131Phe
NM_001386303.1:c.472C>T VV NP_001373232.1:p.Leu158Phe
NM_001386304.1:c.391C>T VV NP_001373233.1:p.Leu131Phe
NM_001386305.1:c.391C>T VV NP_001373234.1:p.Leu131Phe
NM_001386306.1:c.391C>T VV NP_001373235.1:p.Leu131Phe
ENST00000367698.3:c.391C>T ENSP00000356671.3:p.Leu131Phe
ENST00000487183.1:n.96C>T
ENST00000494024.1:n.617C>T
ENST00000617423.4:c.391C>T ENSP00000478688.1:p.Leu131Phe