Canonical Allele Identifier: CA354075120

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644360C>A , CM000665.2:g.120644360C>A	GRCh38
NC_000003.11:g.120363207C>A , CM000665.1:g.120363207C>A	GRCh37
NC_000003.10:g.121845897C>A	NCBI36
NG_011957.1:g.43122G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.733G>T MANE Select	NP_000178.2:p.Val245Phe
ENST00000283871.10:c.733G>T MANE Select	ENSP00000283871.5:p.Val245Phe
NM_000187.3:c.733G>T	NP_000178.2:p.Val245Phe
ENST00000283871.9:c.733G>T	ENSP00000283871.5:p.Val245Phe
ENST00000475447.2:c.202+238G>T
ENST00000492108.5:c.180+2613G>T	ENSP00000419838.1:n.180+2613G>T
ENST00000494453.1:c.153G>T
XM_005247412.1:c.549+2613G>T	XP_005247469.1:n.549+2613G>T
XM_005247412.2:c.549+2613G>T	XP_005247469.1:n.549+2613G>T
XM_005247413.1:c.733G>T	XP_005247470.1:p.Val245Phe
XM_005247413.2:c.733G>T	XP_005247470.1:p.Val245Phe
XM_005247414.5:c.*207G>T	XP_005247471.1:n.*207G>T
XM_011512746.1:c.733G>T	XP_011511048.1:p.Val245Phe
XM_011512746.2:c.733G>T	XP_011511048.1:p.Val245Phe
XM_017006277.2:c.310G>T	XP_016861766.1:p.Val104Phe