Canonical Allele Identifier: CA2667171047

Gene: HGD

Linked Data

• gnomAD v4: 3-120638435-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638435T>G , CM000665.2:g.120638435T>G	GRCh38
NC_000003.11:g.120357282T>G , CM000665.1:g.120357282T>G	GRCh37
NC_000003.10:g.121839972T>G	NCBI36
NG_011957.1:g.49047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1006+20A>C MANE Select	ENSP00000283871.5:n.1006+20A>C
ENST00000283871.9:c.1006+20A>C	ENSP00000283871.5:n.1006+20A>C
ENST00000470321.1:n.346+20A>C
ENST00000475447.2:c.307+3154A>C
ENST00000492108.5:c.285+3154A>C	ENSP00000419838.1:n.285+3154A>C
ENST00000494453.1:c.426+20A>C
NM_000187.3:c.1006+20A>C	NP_000178.2:n.1006+20A>C
XM_005247412.1:c.781+20A>C	XP_005247469.1:n.781+20A>C
XM_005247413.1:c.1006+20A>C	XP_005247470.1:n.1006+20A>C
XM_011512746.1:c.879+3154A>C	XP_011511048.1:n.879+3154A>C
XM_005247412.2:c.781+20A>C	XP_005247469.1:n.781+20A>C
XM_005247413.2:c.1006+20A>C	XP_005247470.1:n.1006+20A>C
XM_011512746.2:c.879+3154A>C	XP_011511048.1:n.879+3154A>C
XM_017006277.2:c.583+20A>C	XP_016861766.1:n.583+20A>C
NM_000187.4:c.1006+20A>C MANE Select	NP_000178.2:n.1006+20A>C