Canonical Allele Identifier: CA354078096

Gene: HGD

Linked Data

• dbSNP Id: rs1576299633
• gnomAD v4: 3-120650831-T-G
• MyVariant Identifiers: chr3:g.120369678T>G (hg19) ; chr3:g.120650831T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650831T>G , CM000665.2:g.120650831T>G	GRCh38
NC_000003.11:g.120369678T>G , CM000665.1:g.120369678T>G	GRCh37
NC_000003.10:g.121852368T>G	NCBI36
NG_011957.1:g.36651A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.377A>C MANE Select	ENSP00000283871.5:p.Lys126Thr
ENST00000283871.9:c.377A>C	ENSP00000283871.5:p.Lys126Thr
ENST00000476082.2:c.254A>C	ENSP00000419560.2:p.Lys85Thr
ENST00000485313.5:n.485A>C
ENST00000492108.5:c.8A>C	ENSP00000419838.1:p.Lys3Thr
NM_000187.3:c.377A>C	NP_000178.2:p.Lys126Thr
XM_005247412.1:c.377A>C	XP_005247469.1:p.Lys126Thr
XM_005247413.1:c.377A>C	XP_005247470.1:p.Lys126Thr
XM_005247414.3:c.377A>C	XP_005247471.1:p.Lys126Thr
XM_011512746.1:c.377A>C	XP_011511048.1:p.Lys126Thr
XM_005247412.2:c.377A>C	XP_005247469.1:p.Lys126Thr
XM_005247413.2:c.377A>C	XP_005247470.1:p.Lys126Thr
XM_005247414.5:c.377A>C	XP_005247471.1:p.Lys126Thr
XM_011512746.2:c.377A>C	XP_011511048.1:p.Lys126Thr
XM_017006277.2:c.-47A>C	XP_016861766.1:n.-47A>C
NM_000187.4:c.377A>C MANE Select	NP_000178.2:p.Lys126Thr