LDH info

Canonical Allele Identifier: CA201020
Gene: ABCB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 194187
ClinVar RCV Id: RCV000174498
dbSNP Id: rs1128503

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550285A>G , CM000669.2:g.87550285A>G GRCh38
NC_000007.13:g.87179601A>G , CM000669.1:g.87179601A>G GRCh37
NC_000007.12:g.87017537A>G NCBI36
NG_011513.1:g.167964T>C

Transcript Alleles

HGVS Amino-acid change
NM_000927.4:c.1236T>C VV NP_000918.2:p.Gly412=
NM_001348944.1:c.1236T>C VV NP_001335873.1:p.Gly412=
NM_001348945.1:c.1446T>C VV NP_001335874.1:p.Gly482=
NM_001348946.1:c.1236T>C VV NP_001335875.1:p.Gly412=
ENST00000265724.7:c.1236T>C ENSP00000265724.3:p.Gly412=
ENST00000543898.5:c.1044T>C ENSP00000444095.1:p.Gly348=
ENST00000622132.4:c.1236T>C ENSP00000478255.1:p.Gly412=