Canonical Allele Identifier: CA9372190

Gene: HPN

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35049296G>A , CM000681.2:g.35049296G>A	GRCh38
NC_000019.9:g.35540200G>A , CM000681.1:g.35540200G>A	GRCh37
NC_000019.8:g.40232040G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001384133.1:c.23G>A MANE Select	NP_001371062.1:p.Arg8Gln
ENST00000672452.2:c.23G>A MANE Select	ENSP00000500664.1:p.Arg8Gln
NM_001375441.1:c.23G>A	NP_001362370.1:p.Arg8Gln
NM_001375441.3:c.23G>A	NP_001362370.1:p.Arg8Gln
NM_002151.2:c.23G>A	NP_002142.1:p.Arg8Gln
NM_002151.3:c.23G>A	NP_002142.1:p.Arg8Gln
NM_002151.5:c.23G>A	NP_002142.1:p.Arg8Gln
NM_182983.2:c.23G>A	NP_892028.1:p.Arg8Gln
NM_182983.3:c.23G>A	NP_892028.1:p.Arg8Gln
NM_182983.5:c.23G>A	NP_892028.1:p.Arg8Gln
ENST00000262626.6:c.23G>A	ENSP00000262626.2:p.Arg8Gln
ENST00000392226.5:c.23G>A	ENSP00000376060.1:p.Arg8Gln
ENST00000541345.6:n.26G>A
ENST00000596662.5:n.26G>A
ENST00000597419.1:c.16+6774G>A	ENSP00000470327.1:n.16+6774G>A
ENST00000599363.5:n.176+6774G>A
ENST00000600390.1:c.23G>A	ENSP00000472310.1:p.Arg8Gln
ENST00000673426.1:c.23G>A	ENSP00000500909.1:p.Arg8Gln
XM_005258838.3:c.23G>A	XP_005258895.2:p.Arg8Gln
XM_005258838.4:c.23G>A	XP_005258895.2:p.Arg8Gln
XM_006723181.2:c.23G>A	XP_006723244.2:p.Arg8Gln
XM_011526891.1:c.-138G>A	XP_011525193.1:n.-138G>A
XM_017026731.1:c.23G>A	XP_016882220.1:p.Arg8Gln
XM_017026732.1:c.-138G>A	XP_016882221.1:n.-138G>A
XR_935935.1:n.518-3372C>T