Canonical Allele Identifier: CA2667171301

Gene: HGD

Linked Data

• gnomAD v4: 3-120641808-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641808T>C , CM000665.2:g.120641808T>C	GRCh38
NC_000003.11:g.120360655T>C , CM000665.1:g.120360655T>C	GRCh37
NC_000003.10:g.121843345T>C	NCBI36
NG_011957.1:g.45674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.775-115A>G MANE Select	ENSP00000283871.5:n.775-115A>G
ENST00000283871.9:c.775-115A>G	ENSP00000283871.5:n.775-115A>G
ENST00000475447.2:c.203-115A>G
ENST00000492108.5:c.181-115A>G	ENSP00000419838.1:n.181-115A>G
ENST00000494453.1:c.195-115A>G
NM_000187.3:c.775-115A>G	NP_000178.2:n.775-115A>G
XM_005247412.1:c.550-115A>G	XP_005247469.1:n.550-115A>G
XM_005247413.1:c.775-115A>G	XP_005247470.1:n.775-115A>G
XM_011512746.1:c.775-115A>G	XP_011511048.1:n.775-115A>G
XM_005247412.2:c.550-115A>G	XP_005247469.1:n.550-115A>G
XM_005247413.2:c.775-115A>G	XP_005247470.1:n.775-115A>G
XM_011512746.2:c.775-115A>G	XP_011511048.1:n.775-115A>G
XM_017006277.2:c.352-115A>G	XP_016861766.1:n.352-115A>G
NM_000187.4:c.775-115A>G MANE Select	NP_000178.2:n.775-115A>G