LDH info

Canonical Allele Identifier: CA1030176525
Gene: EPAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350461G>C , CM000664.2:g.46350461G>C GRCh38
NC_000002.11:g.46577600G>C , CM000664.1:g.46577600G>C GRCh37
NC_000002.10:g.46431104G>C NCBI36
NG_016000.1:g.58060G>C

Transcript Alleles

HGVS Amino-acid change
NM_001430.4:c.217+3398G>C VV NP_001421.2:p.=
XM_011532698.1:c.256+3398G>C XP_011531000.1:p.=
XM_011532698.2:c.256+3398G>C XP_011531000.1:p.=
NM_001430.5:c.217+3398G>C VV MANE Preferred NP_001421.2:p.=
ENST00000263734.4:c.217+3398G>C ENSP00000263734.3:p.=
ENST00000449347.5:c.217+3398G>C ENSP00000406137.1:p.=
ENST00000475822.1:n.408+3398G>C