Canonical Allele Identifier: CA342135392

Gene: HJV

Linked Data

• MyVariant Identifiers: chr1:g.145416590A>T (hg19) ; chr1:g.146018423T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018423T>A , CM000663.2:g.146018423T>A	GRCh38
NC_000001.10:g.145416590A>T , CM000663.1:g.145416590A>T	GRCh37
NC_000001.9:g.144127947A>T	NCBI36
NG_011568.1:g.8400A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.935A>T MANE Select	ENSP00000337014.5:p.Gln312Leu
ENST00000636675.1:c.257A>T	ENSP00000490072.1:p.Gln86Leu
ENST00000336751.10:c.935A>T	ENSP00000337014.5:p.Gln312Leu
ENST00000357836.5:c.596A>T	ENSP00000350495.5:p.Gln199Leu
ENST00000475797.1:c.257A>T	ENSP00000425716.1:p.Gln86Leu
ENST00000497365.5:c.257A>T	ENSP00000421820.1:p.Gln86Leu
NM_001316767.1:c.257A>T	NP_001303696.1:p.Gln86Leu
NM_145277.4:c.596A>T	NP_660320.3:p.Gln199Leu
NM_202004.3:c.257A>T	NP_973733.1:p.Gln86Leu
NM_213652.3:c.257A>T	NP_998817.1:p.Gln86Leu
NM_213653.3:c.935A>T	NP_998818.1:p.Gln312Leu
XM_005272932.1:c.935A>T	XP_005272989.1:p.Gln312Leu
NM_001316767.2:c.257A>T	NP_001303696.1:p.Gln86Leu
NM_145277.5:c.596A>T	NP_660320.3:p.Gln199Leu
NM_202004.4:c.257A>T	NP_973733.1:p.Gln86Leu
NM_213652.4:c.257A>T	NP_998817.1:p.Gln86Leu
NM_001379352.1:c.935A>T	NP_001366281.1:p.Gln312Leu
NM_213653.4:c.935A>T MANE Select	NP_998818.1:p.Gln312Leu