Canonical Allele Identifier: CA342137346

Gene: HJV

Linked Data

• dbSNP Id: rs2101982982
• MyVariant Identifiers: chr1:g.145416406T>A (hg19) ; chr1:g.146018607A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018607A>T , CM000663.2:g.146018607A>T	GRCh38
NC_000001.10:g.145416406T>A , CM000663.1:g.145416406T>A	GRCh37
NC_000001.9:g.144127763T>A	NCBI36
NG_011568.1:g.8216T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.751T>A MANE Select	ENSP00000337014.5:p.Ser251Thr
ENST00000636675.1:c.73T>A	ENSP00000490072.1:p.Ser25Thr
ENST00000336751.10:c.751T>A	ENSP00000337014.5:p.Ser251Thr
ENST00000357836.5:c.412T>A	ENSP00000350495.5:p.Ser138Thr
ENST00000475797.1:c.73T>A	ENSP00000425716.1:p.Ser25Thr
ENST00000497365.5:c.73T>A	ENSP00000421820.1:p.Ser25Thr
ENST00000634927.1:c.*15T>A	ENSP00000489347.1:n.*15T>A
NM_001316767.1:c.73T>A	NP_001303696.1:p.Ser25Thr
NM_145277.4:c.412T>A	NP_660320.3:p.Ser138Thr
NM_202004.3:c.73T>A	NP_973733.1:p.Ser25Thr
NM_213652.3:c.73T>A	NP_998817.1:p.Ser25Thr
NM_213653.3:c.751T>A	NP_998818.1:p.Ser251Thr
XM_005272932.1:c.751T>A	XP_005272989.1:p.Ser251Thr
NM_001316767.2:c.73T>A	NP_001303696.1:p.Ser25Thr
NM_145277.5:c.412T>A	NP_660320.3:p.Ser138Thr
NM_202004.4:c.73T>A	NP_973733.1:p.Ser25Thr
NM_213652.4:c.73T>A	NP_998817.1:p.Ser25Thr
NM_001379352.1:c.751T>A	NP_001366281.1:p.Ser251Thr
NM_213653.4:c.751T>A MANE Select	NP_998818.1:p.Ser251Thr