Canonical Allele Identifier: CA252250

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018382G>A , CM000663.2:g.146018382G>A	GRCh38
NC_000001.10:g.145416631C>T , CM000663.1:g.145416631C>T	GRCh37
NC_000001.9:g.144127988C>T	NCBI36
NG_011568.1:g.8441C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213653.4:c.976C>T MANE Select	NP_998818.1:p.Arg326Ter
ENST00000336751.11:c.976C>T MANE Select	ENSP00000337014.5:p.Arg326Ter
NM_001316767.1:c.298C>T	NP_001303696.1:p.Arg100Ter
NM_001316767.2:c.298C>T	NP_001303696.1:p.Arg100Ter
NM_001379352.1:c.976C>T	NP_001366281.1:p.Arg326Ter
NM_145277.4:c.637C>T	NP_660320.3:p.Arg213Ter
NM_145277.5:c.637C>T	NP_660320.3:p.Arg213Ter
NM_202004.3:c.298C>T	NP_973733.1:p.Arg100Ter
NM_202004.4:c.298C>T	NP_973733.1:p.Arg100Ter
NM_213652.3:c.298C>T	NP_998817.1:p.Arg100Ter
NM_213652.4:c.298C>T	NP_998817.1:p.Arg100Ter
NM_213653.3:c.976C>T	NP_998818.1:p.Arg326Ter
ENST00000336751.10:c.976C>T	ENSP00000337014.5:p.Arg326Ter
ENST00000357836.5:c.637C>T	ENSP00000350495.5:p.Arg213Ter
ENST00000475797.1:c.298C>T	ENSP00000425716.1:p.Arg100Ter
ENST00000497365.5:c.298C>T	ENSP00000421820.1:p.Arg100Ter
ENST00000636675.1:c.298C>T	ENSP00000490072.1:p.Arg100Ter
XM_005272932.1:c.976C>T	XP_005272989.1:p.Arg326Ter