Canonical Allele Identifier: CA1053982
Gene: HJV HGNC NCBI

Linked Data

dbSNP Id: rs781961780

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018144A>G , CM000663.2:g.146018144A>G GRCh38
NC_000001.10:g.145416869T>C , CM000663.1:g.145416869T>C GRCh37
NC_000001.9:g.144128226T>C NCBI36
NG_011568.1:g.8679T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.1214T>C MANE Select ENSP00000337014.5:p.Leu405Pro
ENST00000636675.1:c.536T>C ENSP00000490072.1:p.Leu179Pro
ENST00000336751.10:c.1214T>C ENSP00000337014.5:p.Leu405Pro
ENST00000357836.5:c.875T>C ENSP00000350495.5:p.Leu292Pro
ENST00000475797.1:c.536T>C ENSP00000425716.1:p.Leu179Pro
ENST00000497365.5:c.536T>C ENSP00000421820.1:p.Leu179Pro
NM_001316767.1:c.536T>C NP_001303696.1:p.Leu179Pro
NM_145277.4:c.875T>C NP_660320.3:p.Leu292Pro
NM_202004.3:c.536T>C NP_973733.1:p.Leu179Pro
NM_213652.3:c.536T>C NP_998817.1:p.Leu179Pro
NM_213653.3:c.1214T>C NP_998818.1:p.Leu405Pro
XM_005272932.1:c.1214T>C XP_005272989.1:p.Leu405Pro
NM_001316767.2:c.536T>C NP_001303696.1:p.Leu179Pro
NM_145277.5:c.875T>C NP_660320.3:p.Leu292Pro
NM_202004.4:c.536T>C NP_973733.1:p.Leu179Pro
NM_213652.4:c.536T>C NP_998817.1:p.Leu179Pro
NM_001379352.1:c.1214T>C NP_001366281.1:p.Leu405Pro
NM_213653.4:c.1214T>C MANE Select NP_998818.1:p.Leu405Pro