LDH info

Canonical Allele Identifier: CA210791
Gene: SERPINC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18039
ClinVar RCV Id: RCV000019655
dbSNP Id: rs121909569

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173911981A>G , CM000663.2:g.173911981A>G GRCh38
NC_000001.10:g.173881119A>G , CM000663.1:g.173881119A>G GRCh37
NC_000001.9:g.172147742A>G NCBI36
NG_012462.1:g.10398T>C , LRG_577:g.10398T>C

Transcript Alleles

HGVS Amino-acid change
NM_000488.3:c.442T>C , LRG_577t1:c.442T>C NP_000479.1:p.Ser148Pro
XM_005245198.2:c.298T>C XP_005245255.1:p.Ser100Pro
NM_001365052.1:c.298T>C VV NP_001351981.1:p.Ser100Pro
ENST00000367698.3:c.442T>C ENSP00000356671.3:p.Ser148Pro
ENST00000487183.1:n.147T>C
ENST00000494024.1:n.668T>C
ENST00000617423.4:c.442T>C ENSP00000478688.1:p.Ser148Pro