Canonical Allele Identifier: CA435229709

Gene: HGD

Linked Data

• gnomAD v4: 3-120670433-A-G
• MyVariant Identifiers: chr3:g.120389280A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670433A>G , CM000665.2:g.120670433A>G	GRCh38
NC_000003.11:g.120389280A>G , CM000665.1:g.120389280A>G	GRCh37
NC_000003.10:g.121871970A>G	NCBI36
NG_011957.1:g.17049T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.276T>C MANE Select	ENSP00000283871.5:p.Pro92=
ENST00000283871.9:c.276T>C	ENSP00000283871.5:p.Pro92=
ENST00000466528.5:n.302T>C
ENST00000476082.2:c.153T>C	ENSP00000419560.2:p.Pro51=
ENST00000485313.5:n.384T>C
ENST00000488183.5:n.534T>C
NM_000187.3:c.276T>C	NP_000178.2:p.Pro92=
XM_005247412.1:c.276T>C	XP_005247469.1:p.Pro92=
XM_005247413.1:c.276T>C	XP_005247470.1:p.Pro92=
XM_005247414.3:c.276T>C	XP_005247471.1:p.Pro92=
XM_011512746.1:c.276T>C	XP_011511048.1:p.Pro92=
XM_005247412.2:c.276T>C	XP_005247469.1:p.Pro92=
XM_005247413.2:c.276T>C	XP_005247470.1:p.Pro92=
XM_005247414.5:c.276T>C	XP_005247471.1:p.Pro92=
XM_011512746.2:c.276T>C	XP_011511048.1:p.Pro92=
XM_017006277.2:c.-148T>C	XP_016861766.1:n.-148T>C
NM_000187.4:c.276T>C MANE Select	NP_000178.2:p.Pro92=