Canonical Allele Identifier: CA435229797

Gene: HGD

Linked Data

• gnomAD v4: 3-120670514-T-C
• MyVariant Identifiers: chr3:g.120389361T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670514T>C , CM000665.2:g.120670514T>C	GRCh38
NC_000003.11:g.120389361T>C , CM000665.1:g.120389361T>C	GRCh37
NC_000003.10:g.121872051T>C	NCBI36
NG_011957.1:g.16968A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.195A>G MANE Select	ENSP00000283871.5:p.Leu65=
ENST00000283871.9:c.195A>G	ENSP00000283871.5:p.Leu65=
ENST00000466528.5:n.221A>G
ENST00000476082.2:c.72A>G	ENSP00000419560.2:p.Leu24=
ENST00000485313.5:n.303A>G
ENST00000488183.5:n.453A>G
NM_000187.3:c.195A>G	NP_000178.2:p.Leu65=
XM_005247412.1:c.195A>G	XP_005247469.1:p.Leu65=
XM_005247413.1:c.195A>G	XP_005247470.1:p.Leu65=
XM_005247414.3:c.195A>G	XP_005247471.1:p.Leu65=
XM_011512746.1:c.195A>G	XP_011511048.1:p.Leu65=
XM_005247412.2:c.195A>G	XP_005247469.1:p.Leu65=
XM_005247413.2:c.195A>G	XP_005247470.1:p.Leu65=
XM_005247414.5:c.195A>G	XP_005247471.1:p.Leu65=
XM_011512746.2:c.195A>G	XP_011511048.1:p.Leu65=
XM_017006277.2:c.-229A>G	XP_016861766.1:n.-229A>G
NM_000187.4:c.195A>G MANE Select	NP_000178.2:p.Leu65=