Canonical Allele Identifier: CA1198821614
Gene: HJV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019963C= , CM000663.2:g.146019963C= GRCh38
NC_000001.10:g.145415050G= , CM000663.1:g.145415050G= GRCh37
NC_000001.9:g.144126407G= NCBI36
NG_011568.1:g.6860G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.97+172G= MANE Select ENSP00000337014.5:n.97+172G=
ENST00000636675.1:c.-58-229G= ENSP00000490072.1:n.-58-229G=
ENST00000336751.10:c.97+172G= ENSP00000337014.5:n.97+172G=
ENST00000357836.5:c.-242-229G= ENSP00000350495.5:n.-242-229G=
ENST00000421822.2:c.97+172G= ENSP00000411863.2:n.97+172G=
ENST00000475797.1:c.-21-1263G= ENSP00000425716.1:n.-21-1263G=
ENST00000497365.5:c.-58-229G= ENSP00000421820.1:n.-58-229G=
ENST00000634927.1:c.97+172G= ENSP00000489347.1:n.97+172G=
NM_001316767.1:c.-59+172G= NP_001303696.1:n.-59+172G=
NM_145277.4:c.-242-229G= NP_660320.3:n.-242-229G=
NM_202004.3:c.-58-229G= NP_973733.1:n.-58-229G=
NM_213652.3:c.-21-1263G= NP_998817.1:n.-21-1263G=
NM_213653.3:c.97+172G= NP_998818.1:n.97+172G=
XM_005272932.1:c.97+172G= XP_005272989.1:n.97+172G=
NM_001316767.2:c.-59+172G= NP_001303696.1:n.-59+172G=
NM_145277.5:c.-242-229G= NP_660320.3:n.-242-229G=
NM_202004.4:c.-58-229G= NP_973733.1:n.-58-229G=
NM_213652.4:c.-21-1263G= NP_998817.1:n.-21-1263G=
NM_001379352.1:c.97+172G= NP_001366281.1:n.97+172G=
NM_213653.4:c.97+172G= MANE Select NP_998818.1:n.97+172G=