Canonical Allele Identifier: CA354076776

Gene: HGD

Linked Data

• dbSNP Id: rs1410571047
• gnomAD v2: 3-120365194-A-G
• gnomAD v4: 3-120646347-A-G
• MyVariant Identifiers: chr3:g.120365194A>G (hg19) ; chr3:g.120646347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646347A>G , CM000665.2:g.120646347A>G	GRCh38
NC_000003.11:g.120365194A>G , CM000665.1:g.120365194A>G	GRCh37
NC_000003.10:g.121847884A>G	NCBI36
NG_011957.1:g.41135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.569T>C MANE Select	ENSP00000283871.5:p.Ile190Thr
ENST00000283871.9:c.569T>C	ENSP00000283871.5:p.Ile190Thr
ENST00000475447.2:c.100T>C
ENST00000492108.5:c.180+626T>C	ENSP00000419838.1:n.180+626T>C
NM_000187.3:c.569T>C	NP_000178.2:p.Ile190Thr
XM_005247412.1:c.549+626T>C	XP_005247469.1:n.549+626T>C
XM_005247413.1:c.569T>C	XP_005247470.1:p.Ile190Thr
XM_005247414.3:c.569T>C	XP_005247471.1:p.Ile190Thr
XM_011512746.1:c.569T>C	XP_011511048.1:p.Ile190Thr
XM_005247412.2:c.549+626T>C	XP_005247469.1:n.549+626T>C
XM_005247413.2:c.569T>C	XP_005247470.1:p.Ile190Thr
XM_005247414.5:c.569T>C	XP_005247471.1:p.Ile190Thr
XM_011512746.2:c.569T>C	XP_011511048.1:p.Ile190Thr
XM_017006277.2:c.146T>C	XP_016861766.1:p.Ile49Thr
NM_000187.4:c.569T>C MANE Select	NP_000178.2:p.Ile190Thr