Canonical Allele Identifier: CA2560336

Gene: HGD

Linked Data

• ClinVar Variation Id: 967274
• ClinVar RCV Id: RCV001242145
• dbSNP Id: rs759435977
• ExAC: 3:120393767 G / A
• gnomAD v2: 3-120393767-G-A
• gnomAD v3: 3-120674920-G-A
• gnomAD v4: 3-120674920-G-A
• COSMIC: COSM5636445
• MyVariant Identifiers: chr3:g.120393767G>A (hg19) ; chr3:g.120674920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674920G>A , CM000665.2:g.120674920G>A	GRCh38
NC_000003.11:g.120393767G>A , CM000665.1:g.120393767G>A	GRCh37
NC_000003.10:g.121876457G>A	NCBI36
NG_011957.1:g.12562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.157C>T MANE Select	ENSP00000283871.5:p.Arg53Trp
ENST00000283871.9:c.157C>T	ENSP00000283871.5:p.Arg53Trp
ENST00000466528.5:n.183C>T
ENST00000476082.2:c.53+872C>T	ENSP00000419560.2:n.53+872C>T
ENST00000480862.1:n.315C>T
ENST00000485313.5:n.265C>T
ENST00000488183.5:n.415C>T
NM_000187.3:c.157C>T	NP_000178.2:p.Arg53Trp
XM_005247412.1:c.157C>T	XP_005247469.1:p.Arg53Trp
XM_005247413.1:c.157C>T	XP_005247470.1:p.Arg53Trp
XM_005247414.3:c.157C>T	XP_005247471.1:p.Arg53Trp
XM_011512746.1:c.157C>T	XP_011511048.1:p.Arg53Trp
XM_005247412.2:c.157C>T	XP_005247469.1:p.Arg53Trp
XM_005247413.2:c.157C>T	XP_005247470.1:p.Arg53Trp
XM_005247414.5:c.157C>T	XP_005247471.1:p.Arg53Trp
XM_011512746.2:c.157C>T	XP_011511048.1:p.Arg53Trp
XM_017006277.2:c.-267C>T	XP_016861766.1:n.-267C>T
NM_000187.4:c.157C>T MANE Select	NP_000178.2:p.Arg53Trp