Canonical Allele Identifier: CA354075561

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644431A>T , CM000665.2:g.120644431A>T	GRCh38
NC_000003.11:g.120363278A>T , CM000665.1:g.120363278A>T	GRCh37
NC_000003.10:g.121845968A>T	NCBI36
NG_011957.1:g.43051T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.662T>A MANE Select	NP_000178.2:p.Leu221Ter
ENST00000283871.10:c.662T>A MANE Select	ENSP00000283871.5:p.Leu221Ter
NM_000187.3:c.662T>A	NP_000178.2:p.Leu221Ter
ENST00000283871.9:c.662T>A	ENSP00000283871.5:p.Leu221Ter
ENST00000475447.2:c.202+167T>A
ENST00000492108.5:c.180+2542T>A	ENSP00000419838.1:n.180+2542T>A
ENST00000494453.1:c.82T>A
XM_005247412.1:c.549+2542T>A	XP_005247469.1:n.549+2542T>A
XM_005247412.2:c.549+2542T>A	XP_005247469.1:n.549+2542T>A
XM_005247413.1:c.662T>A	XP_005247470.1:p.Leu221Ter
XM_005247413.2:c.662T>A	XP_005247470.1:p.Leu221Ter
XM_005247414.5:c.*136T>A	XP_005247471.1:n.*136T>A
XM_011512746.1:c.662T>A	XP_011511048.1:p.Leu221Ter
XM_011512746.2:c.662T>A	XP_011511048.1:p.Leu221Ter
XM_017006277.2:c.239T>A	XP_016861766.1:p.Leu80Ter