Canonical Allele Identifier: CA354081519

Gene: HGD

Linked Data

• dbSNP Id: rs1433316740
• gnomAD v4: 3-120670513-G-A
• MyVariant Identifiers: chr3:g.120389360G>A (hg19) ; chr3:g.120670513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670513G>A , CM000665.2:g.120670513G>A	GRCh38
NC_000003.11:g.120389360G>A , CM000665.1:g.120389360G>A	GRCh37
NC_000003.10:g.121872050G>A	NCBI36
NG_011957.1:g.16969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.196C>T MANE Select	ENSP00000283871.5:p.Pro66Ser
ENST00000283871.9:c.196C>T	ENSP00000283871.5:p.Pro66Ser
ENST00000466528.5:n.222C>T
ENST00000476082.2:c.73C>T	ENSP00000419560.2:p.Pro25Ser
ENST00000485313.5:n.304C>T
ENST00000488183.5:n.454C>T
NM_000187.3:c.196C>T	NP_000178.2:p.Pro66Ser
XM_005247412.1:c.196C>T	XP_005247469.1:p.Pro66Ser
XM_005247413.1:c.196C>T	XP_005247470.1:p.Pro66Ser
XM_005247414.3:c.196C>T	XP_005247471.1:p.Pro66Ser
XM_011512746.1:c.196C>T	XP_011511048.1:p.Pro66Ser
XM_005247412.2:c.196C>T	XP_005247469.1:p.Pro66Ser
XM_005247413.2:c.196C>T	XP_005247470.1:p.Pro66Ser
XM_005247414.5:c.196C>T	XP_005247471.1:p.Pro66Ser
XM_011512746.2:c.196C>T	XP_011511048.1:p.Pro66Ser
XM_017006277.2:c.-228C>T	XP_016861766.1:n.-228C>T
NM_000187.4:c.196C>T MANE Select	NP_000178.2:p.Pro66Ser