Canonical Allele Identifier: CA342134070
Gene: HJV HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018306A>C , CM000663.2:g.146018306A>C GRCh38
NC_000001.10:g.145416707T>G , CM000663.1:g.145416707T>G GRCh37
NC_000001.9:g.144128064T>G NCBI36
NG_011568.1:g.8517T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000336751.11:c.1052T>G MANE Select ENSP00000337014.5:p.Leu351Arg
ENST00000636675.1:c.374T>G ENSP00000490072.1:p.Leu125Arg
ENST00000336751.10:c.1052T>G ENSP00000337014.5:p.Leu351Arg
ENST00000357836.5:c.713T>G ENSP00000350495.5:p.Leu238Arg
ENST00000475797.1:c.374T>G ENSP00000425716.1:p.Leu125Arg
ENST00000497365.5:c.374T>G ENSP00000421820.1:p.Leu125Arg
NM_001316767.1:c.374T>G NP_001303696.1:p.Leu125Arg
NM_145277.4:c.713T>G NP_660320.3:p.Leu238Arg
NM_202004.3:c.374T>G NP_973733.1:p.Leu125Arg
NM_213652.3:c.374T>G NP_998817.1:p.Leu125Arg
NM_213653.3:c.1052T>G NP_998818.1:p.Leu351Arg
XM_005272932.1:c.1052T>G XP_005272989.1:p.Leu351Arg
NM_001316767.2:c.374T>G NP_001303696.1:p.Leu125Arg
NM_145277.5:c.713T>G NP_660320.3:p.Leu238Arg
NM_202004.4:c.374T>G NP_973733.1:p.Leu125Arg
NM_213652.4:c.374T>G NP_998817.1:p.Leu125Arg
NM_001379352.1:c.1052T>G NP_001366281.1:p.Leu351Arg
NM_213653.4:c.1052T>G MANE Select NP_998818.1:p.Leu351Arg