Canonical Allele Identifier: CA435227857

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120365118T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646271T>G , CM000665.2:g.120646271T>G	GRCh38
NC_000003.11:g.120365118T>G , CM000665.1:g.120365118T>G	GRCh37
NC_000003.10:g.121847808T>G	NCBI36
NG_011957.1:g.41211A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.645A>C MANE Select	ENSP00000283871.5:p.Pro215=
ENST00000283871.9:c.645A>C	ENSP00000283871.5:p.Pro215=
ENST00000475447.2:c.176A>C
ENST00000492108.5:c.180+702A>C	ENSP00000419838.1:n.180+702A>C
ENST00000494453.1:c.65A>C
NM_000187.3:c.645A>C	NP_000178.2:p.Pro215=
XM_005247412.1:c.549+702A>C	XP_005247469.1:n.549+702A>C
XM_005247413.1:c.645A>C	XP_005247470.1:p.Pro215=
XM_005247414.3:c.645A>C	XP_005247471.1:p.Pro215=
XM_011512746.1:c.645A>C	XP_011511048.1:p.Pro215=
XM_005247412.2:c.549+702A>C	XP_005247469.1:n.549+702A>C
XM_005247413.2:c.645A>C	XP_005247470.1:p.Pro215=
XM_005247414.5:c.645A>C	XP_005247471.1:p.Pro215=
XM_011512746.2:c.645A>C	XP_011511048.1:p.Pro215=
XM_017006277.2:c.222A>C	XP_016861766.1:p.Pro74=
NM_000187.4:c.645A>C MANE Select	NP_000178.2:p.Pro215=