Canonical Allele Identifier: CA354074015

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641664C>G , CM000665.2:g.120641664C>G	GRCh38
NC_000003.11:g.120360511C>G , CM000665.1:g.120360511C>G	GRCh37
NC_000003.10:g.121843201C>G	NCBI36
NG_011957.1:g.45818G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.804G>C MANE Select	NP_000178.2:p.Trp268Cys
ENST00000283871.10:c.804G>C MANE Select	ENSP00000283871.5:p.Trp268Cys
NM_000187.3:c.804G>C	NP_000178.2:p.Trp268Cys
ENST00000283871.9:c.804G>C	ENSP00000283871.5:p.Trp268Cys
ENST00000470321.1:n.144G>C
ENST00000475447.2:c.232G>C
ENST00000492108.5:c.210G>C	ENSP00000419838.1:p.Trp70Cys
ENST00000494453.1:c.224G>C
XM_005247412.1:c.579G>C	XP_005247469.1:p.Trp193Cys
XM_005247412.2:c.579G>C	XP_005247469.1:p.Trp193Cys
XM_005247413.1:c.804G>C	XP_005247470.1:p.Trp268Cys
XM_005247413.2:c.804G>C	XP_005247470.1:p.Trp268Cys
XM_011512746.1:c.804G>C	XP_011511048.1:p.Trp268Cys
XM_011512746.2:c.804G>C	XP_011511048.1:p.Trp268Cys
XM_017006277.2:c.381G>C	XP_016861766.1:p.Trp127Cys