Canonical Allele Identifier: CA2560017

Gene: HGD

Linked Data

• ClinVar Variation Id: 766366
• ClinVar RCV Id: RCV001414490
• dbSNP Id: rs144158342
• ExAC: 3:120357393 A / G
• gnomAD v2: 3-120357393-A-G
• gnomAD v3: 3-120638546-A-G
• gnomAD v4: 3-120638546-A-G
• MyVariant Identifiers: chr3:g.120357393A>G (hg19) ; chr3:g.120638546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638546A>G , CM000665.2:g.120638546A>G	GRCh38
NC_000003.11:g.120357393A>G , CM000665.1:g.120357393A>G	GRCh37
NC_000003.10:g.121840083A>G	NCBI36
NG_011957.1:g.48936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.915T>C MANE Select	ENSP00000283871.5:p.Ser305=
ENST00000283871.9:c.915T>C	ENSP00000283871.5:p.Ser305=
ENST00000470321.1:n.255T>C
ENST00000475447.2:c.307+3043T>C
ENST00000492108.5:c.285+3043T>C	ENSP00000419838.1:n.285+3043T>C
ENST00000494453.1:c.335T>C
NM_000187.3:c.915T>C	NP_000178.2:p.Ser305=
XM_005247412.1:c.690T>C	XP_005247469.1:p.Ser230=
XM_005247413.1:c.915T>C	XP_005247470.1:p.Ser305=
XM_011512746.1:c.879+3043T>C	XP_011511048.1:n.879+3043T>C
XM_005247412.2:c.690T>C	XP_005247469.1:p.Ser230=
XM_005247413.2:c.915T>C	XP_005247470.1:p.Ser305=
XM_011512746.2:c.879+3043T>C	XP_011511048.1:n.879+3043T>C
XM_017006277.2:c.492T>C	XP_016861766.1:p.Ser164=
NM_000187.4:c.915T>C MANE Select	NP_000178.2:p.Ser305=