Canonical Allele Identifier: CA2495285213
Gene: EPAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46385584T= , CM000664.2:g.46385584T= GRCh38
NC_000002.11:g.46612723T= , CM000664.1:g.46612723T= GRCh37
NC_000002.10:g.46466227T= NCBI36
NG_016000.1:g.93183T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.*924T= MANE Select ENSP00000263734.3:n.*924T=
ENST00000263734.4:c.*924T= ENSP00000263734.3:n.*924T=
ENST00000466465.5:n.2510T=
NM_001430.4:c.*924T= NP_001421.2:n.*924T=
XM_011532698.1:c.*924T= XP_011531000.1:n.*924T=
XM_011532698.2:c.*924T= XP_011531000.1:n.*924T=
NM_001430.5:c.*924T= MANE Select NP_001421.2:n.*924T=