Canonical Allele Identifier: CA354082067

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674946A>G , CM000665.2:g.120674946A>G	GRCh38
NC_000003.11:g.120393793A>G , CM000665.1:g.120393793A>G	GRCh37
NC_000003.10:g.121876483A>G	NCBI36
NG_011957.1:g.12536T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.131T>C MANE Select	NP_000178.2:p.Leu44Pro
ENST00000283871.10:c.131T>C MANE Select	ENSP00000283871.5:p.Leu44Pro
NM_000187.3:c.131T>C	NP_000178.2:p.Leu44Pro
ENST00000283871.9:c.131T>C	ENSP00000283871.5:p.Leu44Pro
ENST00000466528.5:n.157T>C
ENST00000476082.2:c.53+846T>C	ENSP00000419560.2:n.53+846T>C
ENST00000480862.1:n.289T>C
ENST00000485313.5:n.239T>C
ENST00000488183.5:n.389T>C
XM_005247412.1:c.131T>C	XP_005247469.1:p.Leu44Pro
XM_005247412.2:c.131T>C	XP_005247469.1:p.Leu44Pro
XM_005247413.1:c.131T>C	XP_005247470.1:p.Leu44Pro
XM_005247413.2:c.131T>C	XP_005247470.1:p.Leu44Pro
XM_005247414.3:c.131T>C	XP_005247471.1:p.Leu44Pro
XM_005247414.5:c.131T>C	XP_005247471.1:p.Leu44Pro
XM_011512746.1:c.131T>C	XP_011511048.1:p.Leu44Pro
XM_011512746.2:c.131T>C	XP_011511048.1:p.Leu44Pro
XM_017006277.2:c.-293T>C	XP_016861766.1:n.-293T>C