Canonical Allele Identifier: CA354078730

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120652635A>G , CM000665.2:g.120652635A>G	GRCh38
NC_000003.11:g.120371482A>G , CM000665.1:g.120371482A>G	GRCh37
NC_000003.10:g.121854172A>G	NCBI36
NG_011957.1:g.34847T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.299T>C MANE Select	NP_000178.2:p.Phe100Ser
ENST00000283871.10:c.299T>C MANE Select	ENSP00000283871.5:p.Phe100Ser
NM_000187.3:c.299T>C	NP_000178.2:p.Phe100Ser
ENST00000283871.9:c.299T>C	ENSP00000283871.5:p.Phe100Ser
ENST00000476082.2:c.176T>C	ENSP00000419560.2:p.Phe59Ser
ENST00000485313.5:n.407T>C
ENST00000488183.5:n.552T>C
XM_005247412.1:c.299T>C	XP_005247469.1:p.Phe100Ser
XM_005247412.2:c.299T>C	XP_005247469.1:p.Phe100Ser
XM_005247413.1:c.299T>C	XP_005247470.1:p.Phe100Ser
XM_005247413.2:c.299T>C	XP_005247470.1:p.Phe100Ser
XM_005247414.3:c.299T>C	XP_005247471.1:p.Phe100Ser
XM_005247414.5:c.299T>C	XP_005247471.1:p.Phe100Ser
XM_011512746.1:c.299T>C	XP_011511048.1:p.Phe100Ser
XM_011512746.2:c.299T>C	XP_011511048.1:p.Phe100Ser
XM_017006277.2:c.-125T>C	XP_016861766.1:n.-125T>C