Canonical Allele Identifier: CA354073743

Gene: HGD

Linked Data

• COSMIC: COSM6273575
• MyVariant Identifiers: chr3:g.120357412G>T (hg19) ; chr3:g.120638565G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638565G>T , CM000665.2:g.120638565G>T	GRCh38
NC_000003.11:g.120357412G>T , CM000665.1:g.120357412G>T	GRCh37
NC_000003.10:g.121840102G>T	NCBI36
NG_011957.1:g.48917C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.896C>A MANE Select	ENSP00000283871.5:p.Thr299Lys
ENST00000283871.9:c.896C>A	ENSP00000283871.5:p.Thr299Lys
ENST00000470321.1:n.236C>A
ENST00000475447.2:c.307+3024C>A
ENST00000492108.5:c.285+3024C>A	ENSP00000419838.1:n.285+3024C>A
ENST00000494453.1:c.316C>A
NM_000187.3:c.896C>A	NP_000178.2:p.Thr299Lys
XM_005247412.1:c.671C>A	XP_005247469.1:p.Thr224Lys
XM_005247413.1:c.896C>A	XP_005247470.1:p.Thr299Lys
XM_011512746.1:c.879+3024C>A	XP_011511048.1:n.879+3024C>A
XM_005247412.2:c.671C>A	XP_005247469.1:p.Thr224Lys
XM_005247413.2:c.896C>A	XP_005247470.1:p.Thr299Lys
XM_011512746.2:c.879+3024C>A	XP_011511048.1:n.879+3024C>A
XM_017006277.2:c.473C>A	XP_016861766.1:p.Thr158Lys
NM_000187.4:c.896C>A MANE Select	NP_000178.2:p.Thr299Lys