Canonical Allele Identifier: CA897933564

Gene: HGD

Linked Data

• dbSNP Id: rs1250573219
• MyVariant Identifiers: chr3:g.120393691A>G (hg19) ; chr3:g.120674844A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674844A>G , CM000665.2:g.120674844A>G	GRCh38
NC_000003.11:g.120393691A>G , CM000665.1:g.120393691A>G	GRCh37
NC_000003.10:g.121876381A>G	NCBI36
NG_011957.1:g.12638T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.176+57T>C MANE Select	ENSP00000283871.5:n.176+57T>C
ENST00000283871.9:c.176+57T>C	ENSP00000283871.5:n.176+57T>C
ENST00000466528.5:n.202+57T>C
ENST00000476082.2:c.53+948T>C	ENSP00000419560.2:n.53+948T>C
ENST00000480862.1:n.391T>C
ENST00000485313.5:n.284+57T>C
ENST00000488183.5:n.434+57T>C
NM_000187.3:c.176+57T>C	NP_000178.2:n.176+57T>C
XM_005247412.1:c.176+57T>C	XP_005247469.1:n.176+57T>C
XM_005247413.1:c.176+57T>C	XP_005247470.1:n.176+57T>C
XM_005247414.3:c.176+57T>C	XP_005247471.1:n.176+57T>C
XM_011512746.1:c.176+57T>C	XP_011511048.1:n.176+57T>C
XM_005247412.2:c.176+57T>C	XP_005247469.1:n.176+57T>C
XM_005247413.2:c.176+57T>C	XP_005247470.1:n.176+57T>C
XM_005247414.5:c.176+57T>C	XP_005247471.1:n.176+57T>C
XM_011512746.2:c.176+57T>C	XP_011511048.1:n.176+57T>C
XM_017006277.2:c.-248+57T>C	XP_016861766.1:n.-248+57T>C
NM_000187.4:c.176+57T>C MANE Select	NP_000178.2:n.176+57T>C