Canonical Allele Identifier: CA354081485

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120389351A>T (hg19) ; chr3:g.120670504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670504A>T , CM000665.2:g.120670504A>T	GRCh38
NC_000003.11:g.120389351A>T , CM000665.1:g.120389351A>T	GRCh37
NC_000003.10:g.121872041A>T	NCBI36
NG_011957.1:g.16978T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.205T>A MANE Select	ENSP00000283871.5:p.Ser69Thr
ENST00000283871.9:c.205T>A	ENSP00000283871.5:p.Ser69Thr
ENST00000466528.5:n.231T>A
ENST00000476082.2:c.82T>A	ENSP00000419560.2:p.Ser28Thr
ENST00000485313.5:n.313T>A
ENST00000488183.5:n.463T>A
NM_000187.3:c.205T>A	NP_000178.2:p.Ser69Thr
XM_005247412.1:c.205T>A	XP_005247469.1:p.Ser69Thr
XM_005247413.1:c.205T>A	XP_005247470.1:p.Ser69Thr
XM_005247414.3:c.205T>A	XP_005247471.1:p.Ser69Thr
XM_011512746.1:c.205T>A	XP_011511048.1:p.Ser69Thr
XM_005247412.2:c.205T>A	XP_005247469.1:p.Ser69Thr
XM_005247413.2:c.205T>A	XP_005247470.1:p.Ser69Thr
XM_005247414.5:c.205T>A	XP_005247471.1:p.Ser69Thr
XM_011512746.2:c.205T>A	XP_011511048.1:p.Ser69Thr
XM_017006277.2:c.-219T>A	XP_016861766.1:n.-219T>A
NM_000187.4:c.205T>A MANE Select	NP_000178.2:p.Ser69Thr