Canonical Allele Identifier: CA2667172204

Gene: HGD

Linked Data

• gnomAD v4: 3-120650872-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650872G>A , CM000665.2:g.120650872G>A	GRCh38
NC_000003.11:g.120369719G>A , CM000665.1:g.120369719G>A	GRCh37
NC_000003.10:g.121852409G>A	NCBI36
NG_011957.1:g.36610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.343-7C>T MANE Select	ENSP00000283871.5:n.343-7C>T
ENST00000283871.9:c.343-7C>T	ENSP00000283871.5:n.343-7C>T
ENST00000476082.2:c.220-7C>T	ENSP00000419560.2:n.220-7C>T
ENST00000485313.5:n.451-7C>T
NM_000187.3:c.343-7C>T	NP_000178.2:n.343-7C>T
XM_005247412.1:c.343-7C>T	XP_005247469.1:n.343-7C>T
XM_005247413.1:c.343-7C>T	XP_005247470.1:n.343-7C>T
XM_005247414.3:c.343-7C>T	XP_005247471.1:n.343-7C>T
XM_011512746.1:c.343-7C>T	XP_011511048.1:n.343-7C>T
XM_005247412.2:c.343-7C>T	XP_005247469.1:n.343-7C>T
XM_005247413.2:c.343-7C>T	XP_005247470.1:n.343-7C>T
XM_005247414.5:c.343-7C>T	XP_005247471.1:n.343-7C>T
XM_011512746.2:c.343-7C>T	XP_011511048.1:n.343-7C>T
XM_017006277.2:c.-81-7C>T	XP_016861766.1:n.-81-7C>T
NM_000187.4:c.343-7C>T MANE Select	NP_000178.2:n.343-7C>T