Canonical Allele Identifier: CA354075457

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644413A>G , CM000665.2:g.120644413A>G	GRCh38
NC_000003.11:g.120363260A>G , CM000665.1:g.120363260A>G	GRCh37
NC_000003.10:g.121845950A>G	NCBI36
NG_011957.1:g.43069T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.680T>C MANE Select	NP_000178.2:p.Phe227Ser
ENST00000283871.10:c.680T>C MANE Select	ENSP00000283871.5:p.Phe227Ser
NM_000187.3:c.680T>C	NP_000178.2:p.Phe227Ser
ENST00000283871.9:c.680T>C	ENSP00000283871.5:p.Phe227Ser
ENST00000475447.2:c.202+185T>C
ENST00000492108.5:c.180+2560T>C	ENSP00000419838.1:n.180+2560T>C
ENST00000494453.1:c.100T>C
XM_005247412.1:c.549+2560T>C	XP_005247469.1:n.549+2560T>C
XM_005247412.2:c.549+2560T>C	XP_005247469.1:n.549+2560T>C
XM_005247413.1:c.680T>C	XP_005247470.1:p.Phe227Ser
XM_005247413.2:c.680T>C	XP_005247470.1:p.Phe227Ser
XM_005247414.5:c.*154T>C	XP_005247471.1:n.*154T>C
XM_011512746.1:c.680T>C	XP_011511048.1:p.Phe227Ser
XM_011512746.2:c.680T>C	XP_011511048.1:p.Phe227Ser
XM_017006277.2:c.257T>C	XP_016861766.1:p.Phe86Ser