Canonical Allele Identifier: CA354081983

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120393779A>T (hg19) ; chr3:g.120674932A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674932A>T , CM000665.2:g.120674932A>T	GRCh38
NC_000003.11:g.120393779A>T , CM000665.1:g.120393779A>T	GRCh37
NC_000003.10:g.121876469A>T	NCBI36
NG_011957.1:g.12550T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.145T>A MANE Select	ENSP00000283871.5:p.Phe49Ile
ENST00000283871.9:c.145T>A	ENSP00000283871.5:p.Phe49Ile
ENST00000466528.5:n.171T>A
ENST00000476082.2:c.53+860T>A	ENSP00000419560.2:n.53+860T>A
ENST00000480862.1:n.303T>A
ENST00000485313.5:n.253T>A
ENST00000488183.5:n.403T>A
NM_000187.3:c.145T>A	NP_000178.2:p.Phe49Ile
XM_005247412.1:c.145T>A	XP_005247469.1:p.Phe49Ile
XM_005247413.1:c.145T>A	XP_005247470.1:p.Phe49Ile
XM_005247414.3:c.145T>A	XP_005247471.1:p.Phe49Ile
XM_011512746.1:c.145T>A	XP_011511048.1:p.Phe49Ile
XM_005247412.2:c.145T>A	XP_005247469.1:p.Phe49Ile
XM_005247413.2:c.145T>A	XP_005247470.1:p.Phe49Ile
XM_005247414.5:c.145T>A	XP_005247471.1:p.Phe49Ile
XM_011512746.2:c.145T>A	XP_011511048.1:p.Phe49Ile
XM_017006277.2:c.-279T>A	XP_016861766.1:n.-279T>A
NM_000187.4:c.145T>A MANE Select	NP_000178.2:p.Phe49Ile