Canonical Allele Identifier: CA1143518203
Gene: HJV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018366T= , CM000663.2:g.146018366T= GRCh38
NC_000001.10:g.145416647A= , CM000663.1:g.145416647A= GRCh37
NC_000001.9:g.144128004A= NCBI36
NG_011568.1:g.8457A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.992A= MANE Select ENSP00000337014.5:p.Glu331=
ENST00000636675.1:c.314A= ENSP00000490072.1:p.Glu105=
ENST00000336751.10:c.992A= ENSP00000337014.5:p.Glu331=
ENST00000357836.5:c.653A= ENSP00000350495.5:p.Glu218=
ENST00000475797.1:c.314A= ENSP00000425716.1:p.Glu105=
ENST00000497365.5:c.314A= ENSP00000421820.1:p.Glu105=
NM_001316767.1:c.314A= NP_001303696.1:p.Glu105=
NM_145277.4:c.653A= NP_660320.3:p.Glu218=
NM_202004.3:c.314A= NP_973733.1:p.Glu105=
NM_213652.3:c.314A= NP_998817.1:p.Glu105=
NM_213653.3:c.992A= NP_998818.1:p.Glu331=
XM_005272932.1:c.992A= XP_005272989.1:p.Glu331=
NM_001316767.2:c.314A= NP_001303696.1:p.Glu105=
NM_145277.5:c.653A= NP_660320.3:p.Glu218=
NM_202004.4:c.314A= NP_973733.1:p.Glu105=
NM_213652.4:c.314A= NP_998817.1:p.Glu105=
NM_001379352.1:c.992A= NP_001366281.1:p.Glu331=
NM_213653.4:c.992A= MANE Select NP_998818.1:p.Glu331=