Canonical Allele Identifier: CA11151201
Gene: EPAS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46329206G>A , CM000664.2:g.46329206G>A GRCh38
NC_000002.11:g.46556345G>A , CM000664.1:g.46556345G>A GRCh37
NC_000002.10:g.46409849G>A NCBI36
NG_016000.1:g.36805G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.27-17667G>A MANE Select ENSP00000263734.3:n.27-17667G>A
ENST00000263734.4:c.27-17667G>A ENSP00000263734.3:n.27-17667G>A
ENST00000449347.5:c.27-17667G>A ENSP00000406137.1:n.27-17667G>A
ENST00000460015.1:n.433-17667G>A
ENST00000467888.5:n.175-17667G>A
NM_001430.4:c.27-17667G>A NP_001421.2:n.27-17667G>A
XM_011532698.1:c.65+3330G>A XP_011531000.1:n.65+3330G>A
XR_940055.1:n.2355+6578C>T
XM_011532698.2:c.65+3330G>A XP_011531000.1:n.65+3330G>A
NM_001430.5:c.27-17667G>A MANE Select NP_001421.2:n.27-17667G>A
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