LDH info

Canonical Allele Identifier: CA14860171
Gene: KCNE1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs727957

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34507774G>T , CM000683.2:g.34507774G>T GRCh38
NC_000021.8:g.35880072G>T , CM000683.1:g.35880072G>T GRCh37
NC_000021.7:g.34801942G>T NCBI36
NG_009091.1:g.8542C>A , LRG_290:g.8542C>A

Transcript Alleles

HGVS Amino-acid change
NM_000219.5:c.-162+3327C>A VV NP_000210.2:p.=
NM_001270402.2:c.-162+3327C>A VV NP_001257331.1:p.=
NM_001270403.2:c.-134+3327C>A VV NP_001257332.1:p.=
NM_001270404.2:c.-51+3327C>A VV NP_001257333.1:p.=
XM_011529557.1:c.168+3327C>A XP_011527859.1:p.=
NM_000219.6:c.-162+3327C>A VV MANE Preferred NP_000210.2:p.=
ENST00000337385.7:c.-162+3327C>A ENSP00000337255.3:p.=
ENST00000399284.1:c.-134+3327C>A ENSP00000382225.1:p.=
ENST00000399286.2:c.-162+3327C>A ENSP00000382226.2:p.=
ENST00000611936.1:c.-51+3327C>A ENSP00000478215.1:p.=