Canonical Allele Identifier: CA2495282237
Gene: EPAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46380275A= , CM000664.2:g.46380275A= GRCh38
NC_000002.11:g.46607414A= , CM000664.1:g.46607414A= GRCh37
NC_000002.10:g.46460918A= NCBI36
NG_016000.1:g.87874A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.1603A= MANE Select ENSP00000263734.3:p.Met535=
ENST00000263734.4:c.1603A= ENSP00000263734.3:p.Met535=
ENST00000466465.5:n.576A=
NM_001430.4:c.1603A= NP_001421.2:p.Met535=
XM_011532698.1:c.1642A= XP_011531000.1:p.Met548=
XM_011532698.2:c.1642A= XP_011531000.1:p.Met548=
NM_001430.5:c.1603A= MANE Select NP_001421.2:p.Met535=