Canonical Allele Identifier: CA1143531420

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019240A= , CM000663.2:g.146019240A=	GRCh38
NC_000001.10:g.145415773T= , CM000663.1:g.145415773T=	GRCh37
NC_000001.9:g.144127130T=	NCBI36
NG_011568.1:g.7583T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.592T= MANE Select	ENSP00000337014.5:p.Phe198=
ENST00000636675.1:c.-22+458T=	ENSP00000490072.1:n.-22+458T=
ENST00000336751.10:c.592T=	ENSP00000337014.5:p.Phe198=
ENST00000357836.5:c.253T=	ENSP00000350495.5:p.Phe85=
ENST00000475797.1:c.-21-540T=	ENSP00000425716.1:n.-21-540T=
ENST00000497365.5:c.-22+458T=	ENSP00000421820.1:n.-22+458T=
ENST00000634927.1:c.134+458T=	ENSP00000489347.1:n.134+458T=
NM_001316767.1:c.-22+458T=	NP_001303696.1:n.-22+458T=
NM_145277.4:c.253T=	NP_660320.3:p.Phe85=
NM_202004.3:c.-22+458T=	NP_973733.1:n.-22+458T=
NM_213652.3:c.-21-540T=	NP_998817.1:n.-21-540T=
NM_213653.3:c.592T=	NP_998818.1:p.Phe198=
XM_005272932.1:c.592T=	XP_005272989.1:p.Phe198=
NM_001316767.2:c.-22+458T=	NP_001303696.1:n.-22+458T=
NM_145277.5:c.253T=	NP_660320.3:p.Phe85=
NM_202004.4:c.-22+458T=	NP_973733.1:n.-22+458T=
NM_213652.4:c.-21-540T=	NP_998817.1:n.-21-540T=
NM_001379352.1:c.592T=	NP_001366281.1:p.Phe198=
NM_213653.4:c.592T= MANE Select	NP_998818.1:p.Phe198=