Canonical Allele Identifier: CA354076825

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120365207T>A (hg19) ; chr3:g.120646360T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646360T>A , CM000665.2:g.120646360T>A	GRCh38
NC_000003.11:g.120365207T>A , CM000665.1:g.120365207T>A	GRCh37
NC_000003.10:g.121847897T>A	NCBI36
NG_011957.1:g.41122A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.556A>T MANE Select	ENSP00000283871.5:p.Met186Leu
ENST00000283871.9:c.556A>T	ENSP00000283871.5:p.Met186Leu
ENST00000475447.2:c.87A>T
ENST00000492108.5:c.180+613A>T	ENSP00000419838.1:n.180+613A>T
NM_000187.3:c.556A>T	NP_000178.2:p.Met186Leu
XM_005247412.1:c.549+613A>T	XP_005247469.1:n.549+613A>T
XM_005247413.1:c.556A>T	XP_005247470.1:p.Met186Leu
XM_005247414.3:c.556A>T	XP_005247471.1:p.Met186Leu
XM_011512746.1:c.556A>T	XP_011511048.1:p.Met186Leu
XM_005247412.2:c.549+613A>T	XP_005247469.1:n.549+613A>T
XM_005247413.2:c.556A>T	XP_005247470.1:p.Met186Leu
XM_005247414.5:c.556A>T	XP_005247471.1:p.Met186Leu
XM_011512746.2:c.556A>T	XP_011511048.1:p.Met186Leu
XM_017006277.2:c.133A>T	XP_016861766.1:p.Met45Leu
NM_000187.4:c.556A>T MANE Select	NP_000178.2:p.Met186Leu