Canonical Allele Identifier: CA81787043

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646986A>C , CM000665.2:g.120646986A>C	GRCh38
NC_000003.11:g.120365833A>C , CM000665.1:g.120365833A>C	GRCh37
NC_000003.10:g.121848523A>C	NCBI36
NG_011957.1:g.40496T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.536T>G MANE Select	NP_000178.2:p.Ile179Ser
ENST00000283871.10:c.536T>G MANE Select	ENSP00000283871.5:p.Ile179Ser
NM_000187.3:c.536T>G	NP_000178.2:p.Ile179Ser
ENST00000283871.9:c.536T>G	ENSP00000283871.5:p.Ile179Ser
ENST00000475447.2:c.67T>G
ENST00000476082.2:c.413T>G	ENSP00000419560.2:p.Ile138Ser
ENST00000492108.5:c.167T>G	ENSP00000419838.1:p.Ile56Ser
XM_005247412.1:c.536T>G	XP_005247469.1:p.Ile179Ser
XM_005247412.2:c.536T>G	XP_005247469.1:p.Ile179Ser
XM_005247413.1:c.536T>G	XP_005247470.1:p.Ile179Ser
XM_005247413.2:c.536T>G	XP_005247470.1:p.Ile179Ser
XM_005247414.3:c.536T>G	XP_005247471.1:p.Ile179Ser
XM_005247414.5:c.536T>G	XP_005247471.1:p.Ile179Ser
XM_011512746.1:c.536T>G	XP_011511048.1:p.Ile179Ser
XM_011512746.2:c.536T>G	XP_011511048.1:p.Ile179Ser
XM_017006277.2:c.113T>G	XP_016861766.1:p.Ile38Ser