Canonical Allele Identifier: CA435227856

Gene: HGD

Linked Data

• gnomAD v4: 3-120646271-T-C
• MyVariant Identifiers: chr3:g.120365118T>C (hg19)

Genomic Alleles

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

Transcript Alleles

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