Canonical Allele Identifier: CA1397093063

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638449A>G , CM000665.2:g.120638449A>G	GRCh38
NC_000003.11:g.120357296A>G , CM000665.1:g.120357296A>G	GRCh37
NC_000003.10:g.121839986A>G	NCBI36
NG_011957.1:g.49033T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.1006+6T>C MANE Select	NP_000178.2:n.1006+6T>C
ENST00000283871.10:c.1006+6T>C MANE Select	ENSP00000283871.5:n.1006+6T>C
NM_000187.3:c.1006+6T>C	NP_000178.2:n.1006+6T>C
ENST00000283871.9:c.1006+6T>C	ENSP00000283871.5:n.1006+6T>C
ENST00000470321.1:n.346+6T>C
ENST00000475447.2:c.307+3140T>C
ENST00000492108.5:c.285+3140T>C	ENSP00000419838.1:n.285+3140T>C
ENST00000494453.1:c.426+6T>C
XM_005247412.1:c.781+6T>C	XP_005247469.1:n.781+6T>C
XM_005247412.2:c.781+6T>C	XP_005247469.1:n.781+6T>C
XM_005247413.1:c.1006+6T>C	XP_005247470.1:n.1006+6T>C
XM_005247413.2:c.1006+6T>C	XP_005247470.1:n.1006+6T>C
XM_011512746.1:c.879+3140T>C	XP_011511048.1:n.879+3140T>C
XM_011512746.2:c.879+3140T>C	XP_011511048.1:n.879+3140T>C
XM_017006277.2:c.583+6T>C	XP_016861766.1:n.583+6T>C