Canonical Allele Identifier: CA1198820876
Gene: HJV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018199A= , CM000663.2:g.146018199A= GRCh38
NC_000001.10:g.145416814T= , CM000663.1:g.145416814T= GRCh37
NC_000001.9:g.144128171T= NCBI36
NG_011568.1:g.8624T=

Transcript Alleles

HGVS Amino-acid change
ENST00000336751.11:c.1159T= MANE Select ENSP00000337014.5:p.Phe387=
ENST00000636675.1:c.481T= ENSP00000490072.1:p.Phe161=
ENST00000336751.10:c.1159T= ENSP00000337014.5:p.Phe387=
ENST00000357836.5:c.820T= ENSP00000350495.5:p.Phe274=
ENST00000475797.1:c.481T= ENSP00000425716.1:p.Phe161=
ENST00000497365.5:c.481T= ENSP00000421820.1:p.Phe161=
NM_001316767.1:c.481T= NP_001303696.1:p.Phe161=
NM_145277.4:c.820T= NP_660320.3:p.Phe274=
NM_202004.3:c.481T= NP_973733.1:p.Phe161=
NM_213652.3:c.481T= NP_998817.1:p.Phe161=
NM_213653.3:c.1159T= NP_998818.1:p.Phe387=
XM_005272932.1:c.1159T= XP_005272989.1:p.Phe387=
NM_001316767.2:c.481T= NP_001303696.1:p.Phe161=
NM_145277.5:c.820T= NP_660320.3:p.Phe274=
NM_202004.4:c.481T= NP_973733.1:p.Phe161=
NM_213652.4:c.481T= NP_998817.1:p.Phe161=
NM_001379352.1:c.1159T= NP_001366281.1:p.Phe387=
NM_213653.4:c.1159T= MANE Select NP_998818.1:p.Phe387=