Canonical Allele Identifier: CA1198820861

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018167G= , CM000663.2:g.146018167G=	GRCh38
NC_000001.10:g.145416846C= , CM000663.1:g.145416846C=	GRCh37
NC_000001.9:g.144128203C=	NCBI36
NG_011568.1:g.8656C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.1191C= MANE Select	ENSP00000337014.5:p.Phe397=
ENST00000636675.1:c.513C=	ENSP00000490072.1:p.Phe171=
ENST00000336751.10:c.1191C=	ENSP00000337014.5:p.Phe397=
ENST00000357836.5:c.852C=	ENSP00000350495.5:p.Phe284=
ENST00000475797.1:c.513C=	ENSP00000425716.1:p.Phe171=
ENST00000497365.5:c.513C=	ENSP00000421820.1:p.Phe171=
NM_001316767.1:c.513C=	NP_001303696.1:p.Phe171=
NM_145277.4:c.852C=	NP_660320.3:p.Phe284=
NM_202004.3:c.513C=	NP_973733.1:p.Phe171=
NM_213652.3:c.513C=	NP_998817.1:p.Phe171=
NM_213653.3:c.1191C=	NP_998818.1:p.Phe397=
XM_005272932.1:c.1191C=	XP_005272989.1:p.Phe397=
NM_001316767.2:c.513C=	NP_001303696.1:p.Phe171=
NM_145277.5:c.852C=	NP_660320.3:p.Phe284=
NM_202004.4:c.513C=	NP_973733.1:p.Phe171=
NM_213652.4:c.513C=	NP_998817.1:p.Phe171=
NM_001379352.1:c.1191C=	NP_001366281.1:p.Phe397=
NM_213653.4:c.1191C= MANE Select	NP_998818.1:p.Phe397=