Canonical Allele Identifier: CA354073992

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641653T>C , CM000665.2:g.120641653T>C	GRCh38
NC_000003.11:g.120360500T>C , CM000665.1:g.120360500T>C	GRCh37
NC_000003.10:g.121843190T>C	NCBI36
NG_011957.1:g.45829A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.815A>G MANE Select	NP_000178.2:p.Tyr272Cys
ENST00000283871.10:c.815A>G MANE Select	ENSP00000283871.5:p.Tyr272Cys
NM_000187.3:c.815A>G	NP_000178.2:p.Tyr272Cys
ENST00000283871.9:c.815A>G	ENSP00000283871.5:p.Tyr272Cys
ENST00000470321.1:n.155A>G
ENST00000475447.2:c.243A>G
ENST00000492108.5:c.221A>G	ENSP00000419838.1:p.Tyr74Cys
ENST00000494453.1:c.235A>G
XM_005247412.1:c.590A>G	XP_005247469.1:p.Tyr197Cys
XM_005247412.2:c.590A>G	XP_005247469.1:p.Tyr197Cys
XM_005247413.1:c.815A>G	XP_005247470.1:p.Tyr272Cys
XM_005247413.2:c.815A>G	XP_005247470.1:p.Tyr272Cys
XM_011512746.1:c.815A>G	XP_011511048.1:p.Tyr272Cys
XM_011512746.2:c.815A>G	XP_011511048.1:p.Tyr272Cys
XM_017006277.2:c.392A>G	XP_016861766.1:p.Tyr131Cys