Canonical Allele Identifier: CA1198820907
Gene: HJV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018293A= , CM000663.2:g.146018293A= GRCh38
NC_000001.10:g.145416720T= , CM000663.1:g.145416720T= GRCh37
NC_000001.9:g.144128077T= NCBI36
NG_011568.1:g.8530T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.1065T= MANE Select ENSP00000337014.5:p.Asp355=
ENST00000636675.1:c.387T= ENSP00000490072.1:p.Asp129=
ENST00000336751.10:c.1065T= ENSP00000337014.5:p.Asp355=
ENST00000357836.5:c.726T= ENSP00000350495.5:p.Asp242=
ENST00000475797.1:c.387T= ENSP00000425716.1:p.Asp129=
ENST00000497365.5:c.387T= ENSP00000421820.1:p.Asp129=
NM_001316767.1:c.387T= NP_001303696.1:p.Asp129=
NM_145277.4:c.726T= NP_660320.3:p.Asp242=
NM_202004.3:c.387T= NP_973733.1:p.Asp129=
NM_213652.3:c.387T= NP_998817.1:p.Asp129=
NM_213653.3:c.1065T= NP_998818.1:p.Asp355=
XM_005272932.1:c.1065T= XP_005272989.1:p.Asp355=
NM_001316767.2:c.387T= NP_001303696.1:p.Asp129=
NM_145277.5:c.726T= NP_660320.3:p.Asp242=
NM_202004.4:c.387T= NP_973733.1:p.Asp129=
NM_213652.4:c.387T= NP_998817.1:p.Asp129=
NM_001379352.1:c.1065T= NP_001366281.1:p.Asp355=
NM_213653.4:c.1065T= MANE Select NP_998818.1:p.Asp355=