Canonical Allele Identifier: CA252257
Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 2371
dbSNP Id: rs121434374

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018395G>T , CM000663.2:g.146018395G>T GRCh38
NC_000001.10:g.145416618C>A , CM000663.1:g.145416618C>A GRCh37
NC_000001.9:g.144127975C>A NCBI36
NG_011568.1:g.8428C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000336751.11:c.963C>A MANE Select ENSP00000337014.5:p.Cys321Ter
ENST00000636675.1:c.285C>A ENSP00000490072.1:p.Cys95Ter
ENST00000336751.10:c.963C>A ENSP00000337014.5:p.Cys321Ter
ENST00000357836.5:c.624C>A ENSP00000350495.5:p.Cys208Ter
ENST00000475797.1:c.285C>A ENSP00000425716.1:p.Cys95Ter
ENST00000497365.5:c.285C>A ENSP00000421820.1:p.Cys95Ter
NM_001316767.1:c.285C>A NP_001303696.1:p.Cys95Ter
NM_145277.4:c.624C>A NP_660320.3:p.Cys208Ter
NM_202004.3:c.285C>A NP_973733.1:p.Cys95Ter
NM_213652.3:c.285C>A NP_998817.1:p.Cys95Ter
NM_213653.3:c.963C>A NP_998818.1:p.Cys321Ter
XM_005272932.1:c.963C>A XP_005272989.1:p.Cys321Ter
NM_001316767.2:c.285C>A NP_001303696.1:p.Cys95Ter
NM_145277.5:c.624C>A NP_660320.3:p.Cys208Ter
NM_202004.4:c.285C>A NP_973733.1:p.Cys95Ter
NM_213652.4:c.285C>A NP_998817.1:p.Cys95Ter
NM_001379352.1:c.963C>A NP_001366281.1:p.Cys321Ter
NM_213653.4:c.963C>A MANE Select NP_998818.1:p.Cys321Ter