Canonical Allele Identifier: CA342134113

Gene: HJV

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018312T>G , CM000663.2:g.146018312T>G	GRCh38
NC_000001.10:g.145416701A>C , CM000663.1:g.145416701A>C	GRCh37
NC_000001.9:g.144128058A>C	NCBI36
NG_011568.1:g.8511A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.1046A>C MANE Select	ENSP00000337014.5:p.Glu349Ala
ENST00000636675.1:c.368A>C	ENSP00000490072.1:p.Glu123Ala
ENST00000336751.10:c.1046A>C	ENSP00000337014.5:p.Glu349Ala
ENST00000357836.5:c.707A>C	ENSP00000350495.5:p.Glu236Ala
ENST00000475797.1:c.368A>C	ENSP00000425716.1:p.Glu123Ala
ENST00000497365.5:c.368A>C	ENSP00000421820.1:p.Glu123Ala
NM_001316767.1:c.368A>C	NP_001303696.1:p.Glu123Ala
NM_145277.4:c.707A>C	NP_660320.3:p.Glu236Ala
NM_202004.3:c.368A>C	NP_973733.1:p.Glu123Ala
NM_213652.3:c.368A>C	NP_998817.1:p.Glu123Ala
NM_213653.3:c.1046A>C	NP_998818.1:p.Glu349Ala
XM_005272932.1:c.1046A>C	XP_005272989.1:p.Glu349Ala
NM_001316767.2:c.368A>C	NP_001303696.1:p.Glu123Ala
NM_145277.5:c.707A>C	NP_660320.3:p.Glu236Ala
NM_202004.4:c.368A>C	NP_973733.1:p.Glu123Ala
NM_213652.4:c.368A>C	NP_998817.1:p.Glu123Ala
NM_001379352.1:c.1046A>C	NP_001366281.1:p.Glu349Ala
NM_213653.4:c.1046A>C MANE Select	NP_998818.1:p.Glu349Ala