Canonical Allele Identifier: CA435229725

Gene: HGD

Linked Data

• gnomAD v4: 3-120670445-A-G
• MyVariant Identifiers: chr3:g.120389292A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670445A>G , CM000665.2:g.120670445A>G	GRCh38
NC_000003.11:g.120389292A>G , CM000665.1:g.120389292A>G	GRCh37
NC_000003.10:g.121871982A>G	NCBI36
NG_011957.1:g.17037T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.264T>C MANE Select	ENSP00000283871.5:p.Val88=
ENST00000283871.9:c.264T>C	ENSP00000283871.5:p.Val88=
ENST00000466528.5:n.290T>C
ENST00000476082.2:c.141T>C	ENSP00000419560.2:p.Val47=
ENST00000485313.5:n.372T>C
ENST00000488183.5:n.522T>C
NM_000187.3:c.264T>C	NP_000178.2:p.Val88=
XM_005247412.1:c.264T>C	XP_005247469.1:p.Val88=
XM_005247413.1:c.264T>C	XP_005247470.1:p.Val88=
XM_005247414.3:c.264T>C	XP_005247471.1:p.Val88=
XM_011512746.1:c.264T>C	XP_011511048.1:p.Val88=
XM_005247412.2:c.264T>C	XP_005247469.1:p.Val88=
XM_005247413.2:c.264T>C	XP_005247470.1:p.Val88=
XM_005247414.5:c.264T>C	XP_005247471.1:p.Val88=
XM_011512746.2:c.264T>C	XP_011511048.1:p.Val88=
XM_017006277.2:c.-160T>C	XP_016861766.1:n.-160T>C
NM_000187.4:c.264T>C MANE Select	NP_000178.2:p.Val88=