Canonical Allele Identifier: CA354073864

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120360443T>A (hg19) ; chr3:g.120641596T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641596T>A , CM000665.2:g.120641596T>A	GRCh38
NC_000003.11:g.120360443T>A , CM000665.1:g.120360443T>A	GRCh37
NC_000003.10:g.121843133T>A	NCBI36
NG_011957.1:g.45886A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.872A>T MANE Select	ENSP00000283871.5:p.Asp291Val
ENST00000283871.9:c.872A>T	ENSP00000283871.5:p.Asp291Val
ENST00000470321.1:n.212A>T
ENST00000475447.2:c.300A>T
ENST00000492108.5:c.278A>T	ENSP00000419838.1:p.Asp93Val
ENST00000494453.1:c.292A>T
NM_000187.3:c.872A>T	NP_000178.2:p.Asp291Val
XM_005247412.1:c.647A>T	XP_005247469.1:p.Asp216Val
XM_005247413.1:c.872A>T	XP_005247470.1:p.Asp291Val
XM_011512746.1:c.872A>T	XP_011511048.1:p.Asp291Val
XM_005247412.2:c.647A>T	XP_005247469.1:p.Asp216Val
XM_005247413.2:c.872A>T	XP_005247470.1:p.Asp291Val
XM_011512746.2:c.872A>T	XP_011511048.1:p.Asp291Val
XM_017006277.2:c.449A>T	XP_016861766.1:p.Asp150Val
NM_000187.4:c.872A>T MANE Select	NP_000178.2:p.Asp291Val