Canonical Allele Identifier: CA354073794

Gene: HGD

Linked Data

• gnomAD v4: 3-120638578-G-A
• MyVariant Identifiers: chr3:g.120357425G>A (hg19) ; chr3:g.120638578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638578G>A , CM000665.2:g.120638578G>A	GRCh38
NC_000003.11:g.120357425G>A , CM000665.1:g.120357425G>A	GRCh37
NC_000003.10:g.121840115G>A	NCBI36
NG_011957.1:g.48904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.883C>T MANE Select	ENSP00000283871.5:p.Pro295Ser
ENST00000283871.9:c.883C>T	ENSP00000283871.5:p.Pro295Ser
ENST00000470321.1:n.223C>T
ENST00000475447.2:c.307+3011C>T
ENST00000492108.5:c.285+3011C>T	ENSP00000419838.1:n.285+3011C>T
ENST00000494453.1:c.303C>T
NM_000187.3:c.883C>T	NP_000178.2:p.Pro295Ser
XM_005247412.1:c.658C>T	XP_005247469.1:p.Pro220Ser
XM_005247413.1:c.883C>T	XP_005247470.1:p.Pro295Ser
XM_011512746.1:c.879+3011C>T	XP_011511048.1:n.879+3011C>T
XM_005247412.2:c.658C>T	XP_005247469.1:p.Pro220Ser
XM_005247413.2:c.883C>T	XP_005247470.1:p.Pro295Ser
XM_011512746.2:c.879+3011C>T	XP_011511048.1:n.879+3011C>T
XM_017006277.2:c.460C>T	XP_016861766.1:p.Pro154Ser
NM_000187.4:c.883C>T MANE Select	NP_000178.2:p.Pro295Ser