Canonical Allele Identifier: CA420603391

Gene: HJV

Linked Data

• MyVariant Identifiers: chr1:g.145416396T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018617A>G , CM000663.2:g.146018617A>G	GRCh38
NC_000001.10:g.145416396T>C , CM000663.1:g.145416396T>C	GRCh37
NC_000001.9:g.144127753T>C	NCBI36
NG_011568.1:g.8206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.741T>C MANE Select	ENSP00000337014.5:p.Phe247=
ENST00000636675.1:c.63T>C	ENSP00000490072.1:p.Phe21=
ENST00000336751.10:c.741T>C	ENSP00000337014.5:p.Phe247=
ENST00000357836.5:c.402T>C	ENSP00000350495.5:p.Phe134=
ENST00000475797.1:c.63T>C	ENSP00000425716.1:p.Phe21=
ENST00000497365.5:c.63T>C	ENSP00000421820.1:p.Phe21=
ENST00000634927.1:c.*5T>C	ENSP00000489347.1:n.*5T>C
NM_001316767.1:c.63T>C	NP_001303696.1:p.Phe21=
NM_145277.4:c.402T>C	NP_660320.3:p.Phe134=
NM_202004.3:c.63T>C	NP_973733.1:p.Phe21=
NM_213652.3:c.63T>C	NP_998817.1:p.Phe21=
NM_213653.3:c.741T>C	NP_998818.1:p.Phe247=
XM_005272932.1:c.741T>C	XP_005272989.1:p.Phe247=
NM_001316767.2:c.63T>C	NP_001303696.1:p.Phe21=
NM_145277.5:c.402T>C	NP_660320.3:p.Phe134=
NM_202004.4:c.63T>C	NP_973733.1:p.Phe21=
NM_213652.4:c.63T>C	NP_998817.1:p.Phe21=
NM_001379352.1:c.741T>C	NP_001366281.1:p.Phe247=
NM_213653.4:c.741T>C MANE Select	NP_998818.1:p.Phe247=