Canonical Allele Identifier: CA342141961
Gene: HJV HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019473G>A , CM000663.2:g.146019473G>A GRCh38
NC_000001.10:g.145415540C>T , CM000663.1:g.145415540C>T GRCh37
NC_000001.9:g.144126897C>T NCBI36
NG_011568.1:g.7350C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.359C>T MANE Select ENSP00000337014.5:p.Ser120Phe
ENST00000636675.1:c.-22+225C>T ENSP00000490072.1:n.-22+225C>T
ENST00000336751.10:c.359C>T ENSP00000337014.5:p.Ser120Phe
ENST00000357836.5:c.20C>T ENSP00000350495.5:p.Ser7Phe
ENST00000475797.1:c.-21-773C>T ENSP00000425716.1:n.-21-773C>T
ENST00000497365.5:c.-22+225C>T ENSP00000421820.1:n.-22+225C>T
ENST00000634927.1:c.134+225C>T ENSP00000489347.1:n.134+225C>T
NM_001316767.1:c.-22+225C>T NP_001303696.1:n.-22+225C>T
NM_145277.4:c.20C>T NP_660320.3:p.Ser7Phe
NM_202004.3:c.-22+225C>T NP_973733.1:n.-22+225C>T
NM_213652.3:c.-21-773C>T NP_998817.1:n.-21-773C>T
NM_213653.3:c.359C>T NP_998818.1:p.Ser120Phe
XM_005272932.1:c.359C>T XP_005272989.1:p.Ser120Phe
NM_001316767.2:c.-22+225C>T NP_001303696.1:n.-22+225C>T
NM_145277.5:c.20C>T NP_660320.3:p.Ser7Phe
NM_202004.4:c.-22+225C>T NP_973733.1:n.-22+225C>T
NM_213652.4:c.-21-773C>T NP_998817.1:n.-21-773C>T
NM_001379352.1:c.359C>T NP_001366281.1:p.Ser120Phe
NM_213653.4:c.359C>T MANE Select NP_998818.1:p.Ser120Phe