Canonical Allele Identifier: CA16040901

Gene: HGD

Linked Data

• ClinVar Variation Id: 370258
• ClinVar RCV Id: RCV000412049
• dbSNP Id: rs1057516355
• MyVariant Identifiers: chr3:g.120400956C>G (hg19) ; chr3:g.120682109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120682109C>G , CM000665.2:g.120682109C>G	GRCh38
NC_000003.11:g.120400956C>G , CM000665.1:g.120400956C>G	GRCh37
NC_000003.10:g.121883646C>G	NCBI36
NG_011957.1:g.5373G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.3G>C MANE Select	ENSP00000283871.5:p.Met1Ile
ENST00000283871.9:c.3G>C	ENSP00000283871.5:p.Met1Ile
ENST00000466528.5:n.29G>C
ENST00000476082.2:c.-32G>C	ENSP00000419560.2:n.-32G>C
ENST00000480862.1:n.161G>C
ENST00000485313.5:n.23G>C
ENST00000488183.5:n.135G>C
NM_000187.3:c.3G>C	NP_000178.2:p.Met1Ile
XM_005247412.1:c.3G>C	XP_005247469.1:p.Met1Ile
XM_005247413.1:c.3G>C	XP_005247470.1:p.Met1Ile
XM_005247414.3:c.3G>C	XP_005247471.1:p.Met1Ile
XM_011512746.1:c.3G>C	XP_011511048.1:p.Met1Ile
XM_005247412.2:c.3G>C	XP_005247469.1:p.Met1Ile
XM_005247413.2:c.3G>C	XP_005247470.1:p.Met1Ile
XM_005247414.5:c.3G>C	XP_005247471.1:p.Met1Ile
XM_011512746.2:c.3G>C	XP_011511048.1:p.Met1Ile
XM_017006277.2:c.-509G>C	XP_016861766.1:n.-509G>C
NM_000187.4:c.3G>C MANE Select	NP_000178.2:p.Met1Ile