Canonical Allele Identifier: CA354076380

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120365125A>T (hg19) ; chr3:g.120646278A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646278A>T , CM000665.2:g.120646278A>T	GRCh38
NC_000003.11:g.120365125A>T , CM000665.1:g.120365125A>T	GRCh37
NC_000003.10:g.121847815A>T	NCBI36
NG_011957.1:g.41204T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.638T>A MANE Select	ENSP00000283871.5:p.Leu213His
ENST00000283871.9:c.638T>A	ENSP00000283871.5:p.Leu213His
ENST00000475447.2:c.169T>A
ENST00000492108.5:c.180+695T>A	ENSP00000419838.1:n.180+695T>A
ENST00000494453.1:c.58T>A
NM_000187.3:c.638T>A	NP_000178.2:p.Leu213His
XM_005247412.1:c.549+695T>A	XP_005247469.1:n.549+695T>A
XM_005247413.1:c.638T>A	XP_005247470.1:p.Leu213His
XM_005247414.3:c.638T>A	XP_005247471.1:p.Leu213His
XM_011512746.1:c.638T>A	XP_011511048.1:p.Leu213His
XM_005247412.2:c.549+695T>A	XP_005247469.1:n.549+695T>A
XM_005247413.2:c.638T>A	XP_005247470.1:p.Leu213His
XM_005247414.5:c.638T>A	XP_005247471.1:p.Leu213His
XM_011512746.2:c.638T>A	XP_011511048.1:p.Leu213His
XM_017006277.2:c.215T>A	XP_016861766.1:p.Leu72His
NM_000187.4:c.638T>A MANE Select	NP_000178.2:p.Leu213His