LDH info

Canonical Allele Identifier: CA46534707
Gene: EPAS1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs568684502

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350494G>T , CM000664.2:g.46350494G>T GRCh38
NC_000002.11:g.46577633G>T , CM000664.1:g.46577633G>T GRCh37
NC_000002.10:g.46431137G>T NCBI36
NG_016000.1:g.58093G>T

Transcript Alleles

HGVS Amino-acid change
NM_001430.4:c.217+3431G>T VV NP_001421.2:p.=
XM_011532698.1:c.256+3431G>T XP_011531000.1:p.=
XM_011532698.2:c.256+3431G>T XP_011531000.1:p.=
NM_001430.5:c.217+3431G>T VV MANE Preferred NP_001421.2:p.=
ENST00000263734.4:c.217+3431G>T ENSP00000263734.3:p.=
ENST00000449347.5:c.217+3431G>T ENSP00000406137.1:p.=
ENST00000475822.1:n.408+3431G>T