Canonical Allele Identifier: CA1053797

Gene: HJV

Linked Data

• dbSNP Id: rs782761100
• ExAC: 1:145415558 C / A
• gnomAD v2: 1-145415558-C-A
• gnomAD v4: 1-146019455-G-T
• MyVariant Identifiers: chr1:g.145415558C>A (hg19) ; chr1:g.146019455G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019455G>T , CM000663.2:g.146019455G>T	GRCh38
NC_000001.10:g.145415558C>A , CM000663.1:g.145415558C>A	GRCh37
NC_000001.9:g.144126915C>A	NCBI36
NG_011568.1:g.7368C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.377C>A MANE Select	ENSP00000337014.5:p.Ala126Asp
ENST00000636675.1:c.-22+243C>A	ENSP00000490072.1:n.-22+243C>A
ENST00000336751.10:c.377C>A	ENSP00000337014.5:p.Ala126Asp
ENST00000357836.5:c.38C>A	ENSP00000350495.5:p.Ala13Asp
ENST00000475797.1:c.-21-755C>A	ENSP00000425716.1:n.-21-755C>A
ENST00000497365.5:c.-22+243C>A	ENSP00000421820.1:n.-22+243C>A
ENST00000634927.1:c.134+243C>A	ENSP00000489347.1:n.134+243C>A
NM_001316767.1:c.-22+243C>A	NP_001303696.1:n.-22+243C>A
NM_145277.4:c.38C>A	NP_660320.3:p.Ala13Asp
NM_202004.3:c.-22+243C>A	NP_973733.1:n.-22+243C>A
NM_213652.3:c.-21-755C>A	NP_998817.1:n.-21-755C>A
NM_213653.3:c.377C>A	NP_998818.1:p.Ala126Asp
XM_005272932.1:c.377C>A	XP_005272989.1:p.Ala126Asp
NM_001316767.2:c.-22+243C>A	NP_001303696.1:n.-22+243C>A
NM_145277.5:c.38C>A	NP_660320.3:p.Ala13Asp
NM_202004.4:c.-22+243C>A	NP_973733.1:n.-22+243C>A
NM_213652.4:c.-21-755C>A	NP_998817.1:n.-21-755C>A
NM_001379352.1:c.377C>A	NP_001366281.1:p.Ala126Asp
NM_213653.4:c.377C>A MANE Select	NP_998818.1:p.Ala126Asp