Canonical Allele Identifier: CA354076491

Gene: HGD

Linked Data

• dbSNP Id: rs1213325366
• gnomAD v2: 3-120365143-T-C
• MyVariant Identifiers: chr3:g.120365143T>C (hg19) ; chr3:g.120646296T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646296T>C , CM000665.2:g.120646296T>C	GRCh38
NC_000003.11:g.120365143T>C , CM000665.1:g.120365143T>C	GRCh37
NC_000003.10:g.121847833T>C	NCBI36
NG_011957.1:g.41186A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.620A>G MANE Select	ENSP00000283871.5:p.His207Arg
ENST00000283871.9:c.620A>G	ENSP00000283871.5:p.His207Arg
ENST00000475447.2:c.151A>G
ENST00000492108.5:c.180+677A>G	ENSP00000419838.1:n.180+677A>G
ENST00000494453.1:c.40A>G
NM_000187.3:c.620A>G	NP_000178.2:p.His207Arg
XM_005247412.1:c.549+677A>G	XP_005247469.1:n.549+677A>G
XM_005247413.1:c.620A>G	XP_005247470.1:p.His207Arg
XM_005247414.3:c.620A>G	XP_005247471.1:p.His207Arg
XM_011512746.1:c.620A>G	XP_011511048.1:p.His207Arg
XM_005247412.2:c.549+677A>G	XP_005247469.1:n.549+677A>G
XM_005247413.2:c.620A>G	XP_005247470.1:p.His207Arg
XM_005247414.5:c.620A>G	XP_005247471.1:p.His207Arg
XM_011512746.2:c.620A>G	XP_011511048.1:p.His207Arg
XM_017006277.2:c.197A>G	XP_016861766.1:p.His66Arg
NM_000187.4:c.620A>G MANE Select	NP_000178.2:p.His207Arg