Canonical Allele Identifier: CA354081201

Gene: HGD

Linked Data

• ClinVar Variation Id: 3002936
• ClinVar RCV Id: RCV003860527
• dbSNP Id: rs1291206526
• gnomAD v2: 3-120389301-C-T
• gnomAD v4: 3-120670454-C-T
• COSMIC: COSM5397879
• MyVariant Identifiers: chr3:g.120389301C>T (hg19) ; chr3:g.120670454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670454C>T , CM000665.2:g.120670454C>T	GRCh38
NC_000003.11:g.120389301C>T , CM000665.1:g.120389301C>T	GRCh37
NC_000003.10:g.121871991C>T	NCBI36
NG_011957.1:g.17028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.255G>A MANE Select	ENSP00000283871.5:p.Trp85Ter
ENST00000283871.9:c.255G>A	ENSP00000283871.5:p.Trp85Ter
ENST00000466528.5:n.281G>A
ENST00000476082.2:c.132G>A	ENSP00000419560.2:p.Trp44Ter
ENST00000485313.5:n.363G>A
ENST00000488183.5:n.513G>A
NM_000187.3:c.255G>A	NP_000178.2:p.Trp85Ter
XM_005247412.1:c.255G>A	XP_005247469.1:p.Trp85Ter
XM_005247413.1:c.255G>A	XP_005247470.1:p.Trp85Ter
XM_005247414.3:c.255G>A	XP_005247471.1:p.Trp85Ter
XM_011512746.1:c.255G>A	XP_011511048.1:p.Trp85Ter
XM_005247412.2:c.255G>A	XP_005247469.1:p.Trp85Ter
XM_005247413.2:c.255G>A	XP_005247470.1:p.Trp85Ter
XM_005247414.5:c.255G>A	XP_005247471.1:p.Trp85Ter
XM_011512746.2:c.255G>A	XP_011511048.1:p.Trp85Ter
XM_017006277.2:c.-169G>A	XP_016861766.1:n.-169G>A
NM_000187.4:c.255G>A MANE Select	NP_000178.2:p.Trp85Ter