Canonical Allele Identifier: CA1053928

Gene: HJV

Linked Data

• dbSNP Id: rs782770079
• ExAC: 1:145416617 G / A
• gnomAD v2: 1-145416617-G-A
• gnomAD v4: 1-146018396-C-T
• MyVariant Identifiers: chr1:g.145416617G>A (hg19) ; chr1:g.146018396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018396C>T , CM000663.2:g.146018396C>T	GRCh38
NC_000001.10:g.145416617G>A , CM000663.1:g.145416617G>A	GRCh37
NC_000001.9:g.144127974G>A	NCBI36
NG_011568.1:g.8427G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.962G>A MANE Select	ENSP00000337014.5:p.Cys321Tyr
ENST00000636675.1:c.284G>A	ENSP00000490072.1:p.Cys95Tyr
ENST00000336751.10:c.962G>A	ENSP00000337014.5:p.Cys321Tyr
ENST00000357836.5:c.623G>A	ENSP00000350495.5:p.Cys208Tyr
ENST00000475797.1:c.284G>A	ENSP00000425716.1:p.Cys95Tyr
ENST00000497365.5:c.284G>A	ENSP00000421820.1:p.Cys95Tyr
NM_001316767.1:c.284G>A	NP_001303696.1:p.Cys95Tyr
NM_145277.4:c.623G>A	NP_660320.3:p.Cys208Tyr
NM_202004.3:c.284G>A	NP_973733.1:p.Cys95Tyr
NM_213652.3:c.284G>A	NP_998817.1:p.Cys95Tyr
NM_213653.3:c.962G>A	NP_998818.1:p.Cys321Tyr
XM_005272932.1:c.962G>A	XP_005272989.1:p.Cys321Tyr
NM_001316767.2:c.284G>A	NP_001303696.1:p.Cys95Tyr
NM_145277.5:c.623G>A	NP_660320.3:p.Cys208Tyr
NM_202004.4:c.284G>A	NP_973733.1:p.Cys95Tyr
NM_213652.4:c.284G>A	NP_998817.1:p.Cys95Tyr
NM_001379352.1:c.962G>A	NP_001366281.1:p.Cys321Tyr
NM_213653.4:c.962G>A MANE Select	NP_998818.1:p.Cys321Tyr