Canonical Allele Identifier: CA2560238

Gene: HGD

Linked Data

• ClinVar Variation Id: 2916272
• ClinVar RCV Id: RCV003607149
• dbSNP Id: rs143223637
• ExAC: 3:120369723 C / A
• gnomAD v2: 3-120369723-C-A
• gnomAD v3: 3-120650876-C-A
• gnomAD v4: 3-120650876-C-A
• MyVariant Identifiers: chr3:g.120369723C>A (hg19) ; chr3:g.120650876C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650876C>A , CM000665.2:g.120650876C>A	GRCh38
NC_000003.11:g.120369723C>A , CM000665.1:g.120369723C>A	GRCh37
NC_000003.10:g.121852413C>A	NCBI36
NG_011957.1:g.36606G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.343-11G>T MANE Select	ENSP00000283871.5:n.343-11G>T
ENST00000283871.9:c.343-11G>T	ENSP00000283871.5:n.343-11G>T
ENST00000476082.2:c.220-11G>T	ENSP00000419560.2:n.220-11G>T
ENST00000485313.5:n.451-11G>T
NM_000187.3:c.343-11G>T	NP_000178.2:n.343-11G>T
XM_005247412.1:c.343-11G>T	XP_005247469.1:n.343-11G>T
XM_005247413.1:c.343-11G>T	XP_005247470.1:n.343-11G>T
XM_005247414.3:c.343-11G>T	XP_005247471.1:n.343-11G>T
XM_011512746.1:c.343-11G>T	XP_011511048.1:n.343-11G>T
XM_005247412.2:c.343-11G>T	XP_005247469.1:n.343-11G>T
XM_005247413.2:c.343-11G>T	XP_005247470.1:n.343-11G>T
XM_005247414.5:c.343-11G>T	XP_005247471.1:n.343-11G>T
XM_011512746.2:c.343-11G>T	XP_011511048.1:n.343-11G>T
XM_017006277.2:c.-81-11G>T	XP_016861766.1:n.-81-11G>T
NM_000187.4:c.343-11G>T MANE Select	NP_000178.2:n.343-11G>T