Canonical Allele Identifier: CA1198821356

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019408G= , CM000663.2:g.146019408G=	GRCh38
NC_000001.10:g.145415605C= , CM000663.1:g.145415605C=	GRCh37
NC_000001.9:g.144126962C=	NCBI36
NG_011568.1:g.7415C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.424C= MANE Select	ENSP00000337014.5:p.Leu142=
ENST00000636675.1:c.-22+290C=	ENSP00000490072.1:n.-22+290C=
ENST00000336751.10:c.424C=	ENSP00000337014.5:p.Leu142=
ENST00000357836.5:c.85C=	ENSP00000350495.5:p.Leu29=
ENST00000475797.1:c.-21-708C=	ENSP00000425716.1:n.-21-708C=
ENST00000497365.5:c.-22+290C=	ENSP00000421820.1:n.-22+290C=
ENST00000634927.1:c.134+290C=	ENSP00000489347.1:n.134+290C=
NM_001316767.1:c.-22+290C=	NP_001303696.1:n.-22+290C=
NM_145277.4:c.85C=	NP_660320.3:p.Leu29=
NM_202004.3:c.-22+290C=	NP_973733.1:n.-22+290C=
NM_213652.3:c.-21-708C=	NP_998817.1:n.-21-708C=
NM_213653.3:c.424C=	NP_998818.1:p.Leu142=
XM_005272932.1:c.424C=	XP_005272989.1:p.Leu142=
NM_001316767.2:c.-22+290C=	NP_001303696.1:n.-22+290C=
NM_145277.5:c.85C=	NP_660320.3:p.Leu29=
NM_202004.4:c.-22+290C=	NP_973733.1:n.-22+290C=
NM_213652.4:c.-21-708C=	NP_998817.1:n.-21-708C=
NM_001379352.1:c.424C=	NP_001366281.1:p.Leu142=
NM_213653.4:c.424C= MANE Select	NP_998818.1:p.Leu142=