Canonical Allele Identifier: CA342143689
Gene: HJV HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019670T>G , CM000663.2:g.146019670T>G GRCh38
NC_000001.10:g.145415343A>C , CM000663.1:g.145415343A>C GRCh37
NC_000001.9:g.144126700A>C NCBI36
NG_011568.1:g.7153A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.162A>C MANE Select ENSP00000337014.5:p.Arg54Ser
ENST00000636675.1:c.-22+28A>C ENSP00000490072.1:n.-22+28A>C
ENST00000336751.10:c.162A>C ENSP00000337014.5:p.Arg54Ser
ENST00000357836.5:c.-178A>C ENSP00000350495.5:n.-178A>C
ENST00000421822.2:c.162A>C ENSP00000411863.2:p.Arg54Ser
ENST00000475797.1:c.-21-970A>C ENSP00000425716.1:n.-21-970A>C
ENST00000497365.5:c.-22+28A>C ENSP00000421820.1:n.-22+28A>C
ENST00000634927.1:c.134+28A>C ENSP00000489347.1:n.134+28A>C
NM_001316767.1:c.-22+28A>C NP_001303696.1:n.-22+28A>C
NM_145277.4:c.-178A>C NP_660320.3:n.-178A>C
NM_202004.3:c.-22+28A>C NP_973733.1:n.-22+28A>C
NM_213652.3:c.-21-970A>C NP_998817.1:n.-21-970A>C
NM_213653.3:c.162A>C NP_998818.1:p.Arg54Ser
XM_005272932.1:c.162A>C XP_005272989.1:p.Arg54Ser
NM_001316767.2:c.-22+28A>C NP_001303696.1:n.-22+28A>C
NM_145277.5:c.-178A>C NP_660320.3:n.-178A>C
NM_202004.4:c.-22+28A>C NP_973733.1:n.-22+28A>C
NM_213652.4:c.-21-970A>C NP_998817.1:n.-21-970A>C
NM_001379352.1:c.162A>C NP_001366281.1:p.Arg54Ser
NM_213653.4:c.162A>C MANE Select NP_998818.1:p.Arg54Ser