Canonical Allele Identifier: CA354075591

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644437T>C , CM000665.2:g.120644437T>C	GRCh38
NC_000003.11:g.120363284T>C , CM000665.1:g.120363284T>C	GRCh37
NC_000003.10:g.121845974T>C	NCBI36
NG_011957.1:g.43045A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.656A>G MANE Select	NP_000178.2:p.Asn219Ser
ENST00000283871.10:c.656A>G MANE Select	ENSP00000283871.5:p.Asn219Ser
NM_000187.3:c.656A>G	NP_000178.2:p.Asn219Ser
ENST00000283871.9:c.656A>G	ENSP00000283871.5:p.Asn219Ser
ENST00000475447.2:c.202+161A>G
ENST00000492108.5:c.180+2536A>G	ENSP00000419838.1:n.180+2536A>G
ENST00000494453.1:c.76A>G
XM_005247412.1:c.549+2536A>G	XP_005247469.1:n.549+2536A>G
XM_005247412.2:c.549+2536A>G	XP_005247469.1:n.549+2536A>G
XM_005247413.1:c.656A>G	XP_005247470.1:p.Asn219Ser
XM_005247413.2:c.656A>G	XP_005247470.1:p.Asn219Ser
XM_005247414.5:c.*130A>G	XP_005247471.1:n.*130A>G
XM_011512746.1:c.656A>G	XP_011511048.1:p.Asn219Ser
XM_011512746.2:c.656A>G	XP_011511048.1:p.Asn219Ser
XM_017006277.2:c.233A>G	XP_016861766.1:p.Asn78Ser