Canonical Allele Identifier: CA354073667

Gene: HGD

Linked Data

• ClinVar Variation Id: 2627699
• ClinVar RCV Id: RCV003388993
• MyVariant Identifiers: chr3:g.120357394G>A (hg19) ; chr3:g.120638547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638547G>A , CM000665.2:g.120638547G>A	GRCh38
NC_000003.11:g.120357394G>A , CM000665.1:g.120357394G>A	GRCh37
NC_000003.10:g.121840084G>A	NCBI36
NG_011957.1:g.48935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.914C>T MANE Select	ENSP00000283871.5:p.Ser305Phe
ENST00000283871.9:c.914C>T	ENSP00000283871.5:p.Ser305Phe
ENST00000470321.1:n.254C>T
ENST00000475447.2:c.307+3042C>T
ENST00000492108.5:c.285+3042C>T	ENSP00000419838.1:n.285+3042C>T
ENST00000494453.1:c.334C>T
NM_000187.3:c.914C>T	NP_000178.2:p.Ser305Phe
XM_005247412.1:c.689C>T	XP_005247469.1:p.Ser230Phe
XM_005247413.1:c.914C>T	XP_005247470.1:p.Ser305Phe
XM_011512746.1:c.879+3042C>T	XP_011511048.1:n.879+3042C>T
XM_005247412.2:c.689C>T	XP_005247469.1:p.Ser230Phe
XM_005247413.2:c.914C>T	XP_005247470.1:p.Ser305Phe
XM_011512746.2:c.879+3042C>T	XP_011511048.1:n.879+3042C>T
XM_017006277.2:c.491C>T	XP_016861766.1:p.Ser164Phe
NM_000187.4:c.914C>T MANE Select	NP_000178.2:p.Ser305Phe