Canonical Allele Identifier: CA420603400

Gene: HJV

Linked Data

• MyVariant Identifiers: chr1:g.145416603C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018410G>A , CM000663.2:g.146018410G>A	GRCh38
NC_000001.10:g.145416603C>T , CM000663.1:g.145416603C>T	GRCh37
NC_000001.9:g.144127960C>T	NCBI36
NG_011568.1:g.8413C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.948C>T MANE Select	ENSP00000337014.5:p.Leu316=
ENST00000636675.1:c.270C>T	ENSP00000490072.1:p.Leu90=
ENST00000336751.10:c.948C>T	ENSP00000337014.5:p.Leu316=
ENST00000357836.5:c.609C>T	ENSP00000350495.5:p.Leu203=
ENST00000475797.1:c.270C>T	ENSP00000425716.1:p.Leu90=
ENST00000497365.5:c.270C>T	ENSP00000421820.1:p.Leu90=
NM_001316767.1:c.270C>T	NP_001303696.1:p.Leu90=
NM_145277.4:c.609C>T	NP_660320.3:p.Leu203=
NM_202004.3:c.270C>T	NP_973733.1:p.Leu90=
NM_213652.3:c.270C>T	NP_998817.1:p.Leu90=
NM_213653.3:c.948C>T	NP_998818.1:p.Leu316=
XM_005272932.1:c.948C>T	XP_005272989.1:p.Leu316=
NM_001316767.2:c.270C>T	NP_001303696.1:p.Leu90=
NM_145277.5:c.609C>T	NP_660320.3:p.Leu203=
NM_202004.4:c.270C>T	NP_973733.1:p.Leu90=
NM_213652.4:c.270C>T	NP_998817.1:p.Leu90=
NM_001379352.1:c.948C>T	NP_001366281.1:p.Leu316=
NM_213653.4:c.948C>T MANE Select	NP_998818.1:p.Leu316=