Canonical Allele Identifier: CA354075286

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644391A>C , CM000665.2:g.120644391A>C	GRCh38
NC_000003.11:g.120363238A>C , CM000665.1:g.120363238A>C	GRCh37
NC_000003.10:g.121845928A>C	NCBI36
NG_011957.1:g.43091T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.702T>G MANE Select	NP_000178.2:p.Tyr234Ter
ENST00000283871.10:c.702T>G MANE Select	ENSP00000283871.5:p.Tyr234Ter
NM_000187.3:c.702T>G	NP_000178.2:p.Tyr234Ter
ENST00000283871.9:c.702T>G	ENSP00000283871.5:p.Tyr234Ter
ENST00000475447.2:c.202+207T>G
ENST00000492108.5:c.180+2582T>G	ENSP00000419838.1:n.180+2582T>G
ENST00000494453.1:c.122T>G
XM_005247412.1:c.549+2582T>G	XP_005247469.1:n.549+2582T>G
XM_005247412.2:c.549+2582T>G	XP_005247469.1:n.549+2582T>G
XM_005247413.1:c.702T>G	XP_005247470.1:p.Tyr234Ter
XM_005247413.2:c.702T>G	XP_005247470.1:p.Tyr234Ter
XM_005247414.5:c.*176T>G	XP_005247471.1:n.*176T>G
XM_011512746.1:c.702T>G	XP_011511048.1:p.Tyr234Ter
XM_011512746.2:c.702T>G	XP_011511048.1:p.Tyr234Ter
XM_017006277.2:c.279T>G	XP_016861766.1:p.Tyr93Ter