Canonical Allele Identifier: CA342141379
Gene: HJV HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019413G>C , CM000663.2:g.146019413G>C GRCh38
NC_000001.10:g.145415600C>G , CM000663.1:g.145415600C>G GRCh37
NC_000001.9:g.144126957C>G NCBI36
NG_011568.1:g.7410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.419C>G MANE Select ENSP00000337014.5:p.Ser140Cys
ENST00000636675.1:c.-22+285C>G ENSP00000490072.1:n.-22+285C>G
ENST00000336751.10:c.419C>G ENSP00000337014.5:p.Ser140Cys
ENST00000357836.5:c.80C>G ENSP00000350495.5:p.Ser27Cys
ENST00000475797.1:c.-21-713C>G ENSP00000425716.1:n.-21-713C>G
ENST00000497365.5:c.-22+285C>G ENSP00000421820.1:n.-22+285C>G
ENST00000634927.1:c.134+285C>G ENSP00000489347.1:n.134+285C>G
NM_001316767.1:c.-22+285C>G NP_001303696.1:n.-22+285C>G
NM_145277.4:c.80C>G NP_660320.3:p.Ser27Cys
NM_202004.3:c.-22+285C>G NP_973733.1:n.-22+285C>G
NM_213652.3:c.-21-713C>G NP_998817.1:n.-21-713C>G
NM_213653.3:c.419C>G NP_998818.1:p.Ser140Cys
XM_005272932.1:c.419C>G XP_005272989.1:p.Ser140Cys
NM_001316767.2:c.-22+285C>G NP_001303696.1:n.-22+285C>G
NM_145277.5:c.80C>G NP_660320.3:p.Ser27Cys
NM_202004.4:c.-22+285C>G NP_973733.1:n.-22+285C>G
NM_213652.4:c.-21-713C>G NP_998817.1:n.-21-713C>G
NM_001379352.1:c.419C>G NP_001366281.1:p.Ser140Cys
NM_213653.4:c.419C>G MANE Select NP_998818.1:p.Ser140Cys