Canonical Allele Identifier: CA2560367

Gene: HGD

Linked Data

• dbSNP Id: rs758022885
• ExAC: 3:120394597 A / C
• gnomAD v2: 3-120394597-A-C
• gnomAD v4: 3-120675750-A-C
• MyVariant Identifiers: chr3:g.120394597A>C (hg19) ; chr3:g.120675750A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675750A>C , CM000665.2:g.120675750A>C	GRCh38
NC_000003.11:g.120394597A>C , CM000665.1:g.120394597A>C	GRCh37
NC_000003.10:g.121877287A>C	NCBI36
NG_011957.1:g.11732T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.87+42T>G MANE Select	ENSP00000283871.5:n.87+42T>G
ENST00000283871.9:c.87+42T>G	ENSP00000283871.5:n.87+42T>G
ENST00000466528.5:n.113+42T>G
ENST00000476082.2:c.53+42T>G	ENSP00000419560.2:n.53+42T>G
ENST00000480862.1:n.245+42T>G
ENST00000485313.5:n.195+42T>G
ENST00000488183.5:n.345+42T>G
NM_000187.3:c.87+42T>G	NP_000178.2:n.87+42T>G
XM_005247412.1:c.87+42T>G	XP_005247469.1:n.87+42T>G
XM_005247413.1:c.87+42T>G	XP_005247470.1:n.87+42T>G
XM_005247414.3:c.87+42T>G	XP_005247471.1:n.87+42T>G
XM_011512746.1:c.87+42T>G	XP_011511048.1:n.87+42T>G
XM_005247412.2:c.87+42T>G	XP_005247469.1:n.87+42T>G
XM_005247413.2:c.87+42T>G	XP_005247470.1:n.87+42T>G
XM_005247414.5:c.87+42T>G	XP_005247471.1:n.87+42T>G
XM_011512746.2:c.87+42T>G	XP_011511048.1:n.87+42T>G
XM_017006277.2:c.-337+42T>G	XP_016861766.1:n.-337+42T>G
NM_000187.4:c.87+42T>G MANE Select	NP_000178.2:n.87+42T>G