Canonical Allele Identifier: CA1198821415
Gene: HJV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019533T= , CM000663.2:g.146019533T= GRCh38
NC_000001.10:g.145415480A= , CM000663.1:g.145415480A= GRCh37
NC_000001.9:g.144126837A= NCBI36
NG_011568.1:g.7290A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.299A= MANE Select ENSP00000337014.5:p.Asp100=
ENST00000636675.1:c.-22+165A= ENSP00000490072.1:n.-22+165A=
ENST00000336751.10:c.299A= ENSP00000337014.5:p.Asp100=
ENST00000357836.5:c.-41A= ENSP00000350495.5:n.-41A=
ENST00000475797.1:c.-21-833A= ENSP00000425716.1:n.-21-833A=
ENST00000497365.5:c.-22+165A= ENSP00000421820.1:n.-22+165A=
ENST00000634927.1:c.134+165A= ENSP00000489347.1:n.134+165A=
NM_001316767.1:c.-22+165A= NP_001303696.1:n.-22+165A=
NM_145277.4:c.-41A= NP_660320.3:n.-41A=
NM_202004.3:c.-22+165A= NP_973733.1:n.-22+165A=
NM_213652.3:c.-21-833A= NP_998817.1:n.-21-833A=
NM_213653.3:c.299A= NP_998818.1:p.Asp100=
XM_005272932.1:c.299A= XP_005272989.1:p.Asp100=
NM_001316767.2:c.-22+165A= NP_001303696.1:n.-22+165A=
NM_145277.5:c.-41A= NP_660320.3:n.-41A=
NM_202004.4:c.-22+165A= NP_973733.1:n.-22+165A=
NM_213652.4:c.-21-833A= NP_998817.1:n.-21-833A=
NM_001379352.1:c.299A= NP_001366281.1:p.Asp100=
NM_213653.4:c.299A= MANE Select NP_998818.1:p.Asp100=