Canonical Allele Identifier: CA2840081021

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650685G>C , CM000665.2:g.120650685G>C	GRCh38
NC_000003.11:g.120369532G>C , CM000665.1:g.120369532G>C	GRCh37
NC_000003.10:g.121852222G>C	NCBI36
NG_011957.1:g.36797C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.434+89C>G MANE Select	ENSP00000283871.5:n.434+89C>G
ENST00000283871.9:c.434+89C>G	ENSP00000283871.5:n.434+89C>G
ENST00000476082.2:c.311+89C>G	ENSP00000419560.2:n.311+89C>G
ENST00000492108.5:c.65+89C>G	ENSP00000419838.1:n.65+89C>G
NM_000187.3:c.434+89C>G	NP_000178.2:n.434+89C>G
XM_005247412.1:c.434+89C>G	XP_005247469.1:n.434+89C>G
XM_005247413.1:c.434+89C>G	XP_005247470.1:n.434+89C>G
XM_005247414.3:c.434+89C>G	XP_005247471.1:n.434+89C>G
XM_011512746.1:c.434+89C>G	XP_011511048.1:n.434+89C>G
XM_005247412.2:c.434+89C>G	XP_005247469.1:n.434+89C>G
XM_005247413.2:c.434+89C>G	XP_005247470.1:n.434+89C>G
XM_005247414.5:c.434+89C>G	XP_005247471.1:n.434+89C>G
XM_011512746.2:c.434+89C>G	XP_011511048.1:n.434+89C>G
XM_017006277.2:c.11+89C>G	XP_016861766.1:n.11+89C>G
NM_000187.4:c.434+89C>G MANE Select	NP_000178.2:n.434+89C>G