Canonical Allele Identifier: CA1198821480

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019676G= , CM000663.2:g.146019676G=	GRCh38
NC_000001.10:g.145415337C= , CM000663.1:g.145415337C=	GRCh37
NC_000001.9:g.144126694C=	NCBI36
NG_011568.1:g.7147C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.156C= MANE Select	ENSP00000337014.5:p.Ser52=
ENST00000636675.1:c.-22+22C=	ENSP00000490072.1:n.-22+22C=
ENST00000336751.10:c.156C=	ENSP00000337014.5:p.Ser52=
ENST00000357836.5:c.-184C=	ENSP00000350495.5:n.-184C=
ENST00000421822.2:c.156C=	ENSP00000411863.2:p.Ser52=
ENST00000475797.1:c.-21-976C=	ENSP00000425716.1:n.-21-976C=
ENST00000497365.5:c.-22+22C=	ENSP00000421820.1:n.-22+22C=
ENST00000634927.1:c.134+22C=	ENSP00000489347.1:n.134+22C=
NM_001316767.1:c.-22+22C=	NP_001303696.1:n.-22+22C=
NM_145277.4:c.-184C=	NP_660320.3:n.-184C=
NM_202004.3:c.-22+22C=	NP_973733.1:n.-22+22C=
NM_213652.3:c.-21-976C=	NP_998817.1:n.-21-976C=
NM_213653.3:c.156C=	NP_998818.1:p.Ser52=
XM_005272932.1:c.156C=	XP_005272989.1:p.Ser52=
NM_001316767.2:c.-22+22C=	NP_001303696.1:n.-22+22C=
NM_145277.5:c.-184C=	NP_660320.3:n.-184C=
NM_202004.4:c.-22+22C=	NP_973733.1:n.-22+22C=
NM_213652.4:c.-21-976C=	NP_998817.1:n.-21-976C=
NM_001379352.1:c.156C=	NP_001366281.1:p.Ser52=
NM_213653.4:c.156C= MANE Select	NP_998818.1:p.Ser52=