Canonical Allele Identifier: CA2667172179

Gene: HGD

Linked Data

• gnomAD v4: 3-120650729-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650729C>G , CM000665.2:g.120650729C>G	GRCh38
NC_000003.11:g.120369576C>G , CM000665.1:g.120369576C>G	GRCh37
NC_000003.10:g.121852266C>G	NCBI36
NG_011957.1:g.36753G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.434+45G>C MANE Select	ENSP00000283871.5:n.434+45G>C
ENST00000283871.9:c.434+45G>C	ENSP00000283871.5:n.434+45G>C
ENST00000476082.2:c.311+45G>C	ENSP00000419560.2:n.311+45G>C
ENST00000492108.5:c.65+45G>C	ENSP00000419838.1:n.65+45G>C
NM_000187.3:c.434+45G>C	NP_000178.2:n.434+45G>C
XM_005247412.1:c.434+45G>C	XP_005247469.1:n.434+45G>C
XM_005247413.1:c.434+45G>C	XP_005247470.1:n.434+45G>C
XM_005247414.3:c.434+45G>C	XP_005247471.1:n.434+45G>C
XM_011512746.1:c.434+45G>C	XP_011511048.1:n.434+45G>C
XM_005247412.2:c.434+45G>C	XP_005247469.1:n.434+45G>C
XM_005247413.2:c.434+45G>C	XP_005247470.1:n.434+45G>C
XM_005247414.5:c.434+45G>C	XP_005247471.1:n.434+45G>C
XM_011512746.2:c.434+45G>C	XP_011511048.1:n.434+45G>C
XM_017006277.2:c.11+45G>C	XP_016861766.1:n.11+45G>C
NM_000187.4:c.434+45G>C MANE Select	NP_000178.2:n.434+45G>C