Canonical Allele Identifier: CA354082144

Gene: HGD

Linked Data

• gnomAD v4: 3-120674959-A-G
• MyVariant Identifiers: chr3:g.120393806A>G (hg19) ; chr3:g.120674959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674959A>G , CM000665.2:g.120674959A>G	GRCh38
NC_000003.11:g.120393806A>G , CM000665.1:g.120393806A>G	GRCh37
NC_000003.10:g.121876496A>G	NCBI36
NG_011957.1:g.12523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.118T>C MANE Select	ENSP00000283871.5:p.Tyr40His
ENST00000283871.9:c.118T>C	ENSP00000283871.5:p.Tyr40His
ENST00000466528.5:n.144T>C
ENST00000476082.2:c.53+833T>C	ENSP00000419560.2:n.53+833T>C
ENST00000480862.1:n.276T>C
ENST00000485313.5:n.226T>C
ENST00000488183.5:n.376T>C
NM_000187.3:c.118T>C	NP_000178.2:p.Tyr40His
XM_005247412.1:c.118T>C	XP_005247469.1:p.Tyr40His
XM_005247413.1:c.118T>C	XP_005247470.1:p.Tyr40His
XM_005247414.3:c.118T>C	XP_005247471.1:p.Tyr40His
XM_011512746.1:c.118T>C	XP_011511048.1:p.Tyr40His
XM_005247412.2:c.118T>C	XP_005247469.1:p.Tyr40His
XM_005247413.2:c.118T>C	XP_005247470.1:p.Tyr40His
XM_005247414.5:c.118T>C	XP_005247471.1:p.Tyr40His
XM_011512746.2:c.118T>C	XP_011511048.1:p.Tyr40His
XM_017006277.2:c.-306T>C	XP_016861766.1:n.-306T>C
NM_000187.4:c.118T>C MANE Select	NP_000178.2:p.Tyr40His