Canonical Allele Identifier: CA2560198

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120647875A>G , CM000665.2:g.120647875A>G	GRCh38
NC_000003.11:g.120366722A>G , CM000665.1:g.120366722A>G	GRCh37
NC_000003.10:g.121849412A>G	NCBI36
NG_011957.1:g.39607T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.469+2T>C MANE Select	NP_000178.2:n.469+2T>C
ENST00000283871.10:c.469+2T>C MANE Select	ENSP00000283871.5:n.469+2T>C
NM_000187.3:c.469+2T>C	NP_000178.2:n.469+2T>C
ENST00000283871.9:c.469+2T>C	ENSP00000283871.5:n.469+2T>C
ENST00000476082.2:c.346+2T>C	ENSP00000419560.2:n.346+2T>C
ENST00000492108.5:c.100+2T>C	ENSP00000419838.1:n.100+2T>C
XM_005247412.1:c.469+2T>C	XP_005247469.1:n.469+2T>C
XM_005247412.2:c.469+2T>C	XP_005247469.1:n.469+2T>C
XM_005247413.1:c.469+2T>C	XP_005247470.1:n.469+2T>C
XM_005247413.2:c.469+2T>C	XP_005247470.1:n.469+2T>C
XM_005247414.3:c.469+2T>C	XP_005247471.1:n.469+2T>C
XM_005247414.5:c.469+2T>C	XP_005247471.1:n.469+2T>C
XM_011512746.1:c.469+2T>C	XP_011511048.1:n.469+2T>C
XM_011512746.2:c.469+2T>C	XP_011511048.1:n.469+2T>C
XM_017006277.2:c.46+2T>C	XP_016861766.1:n.46+2T>C