Canonical Allele Identifier: CA545611123

Gene: HGD

Linked Data

• dbSNP Id: rs1461716858
• gnomAD v2: 3-120393698-C-G
• gnomAD v3: 3-120674851-C-G
• gnomAD v4: 3-120674851-C-G
• COSMIC: COSN23728162
• MyVariant Identifiers: chr3:g.120393698C>G (hg19) ; chr3:g.120674851C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674851C>G , CM000665.2:g.120674851C>G	GRCh38
NC_000003.11:g.120393698C>G , CM000665.1:g.120393698C>G	GRCh37
NC_000003.10:g.121876388C>G	NCBI36
NG_011957.1:g.12631G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.176+50G>C MANE Select	ENSP00000283871.5:n.176+50G>C
ENST00000283871.9:c.176+50G>C	ENSP00000283871.5:n.176+50G>C
ENST00000466528.5:n.202+50G>C
ENST00000476082.2:c.53+941G>C	ENSP00000419560.2:n.53+941G>C
ENST00000480862.1:n.384G>C
ENST00000485313.5:n.284+50G>C
ENST00000488183.5:n.434+50G>C
NM_000187.3:c.176+50G>C	NP_000178.2:n.176+50G>C
XM_005247412.1:c.176+50G>C	XP_005247469.1:n.176+50G>C
XM_005247413.1:c.176+50G>C	XP_005247470.1:n.176+50G>C
XM_005247414.3:c.176+50G>C	XP_005247471.1:n.176+50G>C
XM_011512746.1:c.176+50G>C	XP_011511048.1:n.176+50G>C
XM_005247412.2:c.176+50G>C	XP_005247469.1:n.176+50G>C
XM_005247413.2:c.176+50G>C	XP_005247470.1:n.176+50G>C
XM_005247414.5:c.176+50G>C	XP_005247471.1:n.176+50G>C
XM_011512746.2:c.176+50G>C	XP_011511048.1:n.176+50G>C
XM_017006277.2:c.-248+50G>C	XP_016861766.1:n.-248+50G>C
NM_000187.4:c.176+50G>C MANE Select	NP_000178.2:n.176+50G>C