Canonical Allele Identifier: CA2560216

Gene: HGD

Linked Data

• dbSNP Id: rs755680655
• ExAC: 3:120369630 A / G
• gnomAD v2: 3-120369630-A-G
• gnomAD v4: 3-120650783-A-G
• MyVariant Identifiers: chr3:g.120369630A>G (hg19) ; chr3:g.120650783A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650783A>G , CM000665.2:g.120650783A>G	GRCh38
NC_000003.11:g.120369630A>G , CM000665.1:g.120369630A>G	GRCh37
NC_000003.10:g.121852320A>G	NCBI36
NG_011957.1:g.36699T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.425T>C MANE Select	ENSP00000283871.5:p.Met142Thr
ENST00000283871.9:c.425T>C	ENSP00000283871.5:p.Met142Thr
ENST00000476082.2:c.302T>C	ENSP00000419560.2:p.Met101Thr
ENST00000492108.5:c.56T>C	ENSP00000419838.1:p.Met19Thr
NM_000187.3:c.425T>C	NP_000178.2:p.Met142Thr
XM_005247412.1:c.425T>C	XP_005247469.1:p.Met142Thr
XM_005247413.1:c.425T>C	XP_005247470.1:p.Met142Thr
XM_005247414.3:c.425T>C	XP_005247471.1:p.Met142Thr
XM_011512746.1:c.425T>C	XP_011511048.1:p.Met142Thr
XM_005247412.2:c.425T>C	XP_005247469.1:p.Met142Thr
XM_005247413.2:c.425T>C	XP_005247470.1:p.Met142Thr
XM_005247414.5:c.425T>C	XP_005247471.1:p.Met142Thr
XM_011512746.2:c.425T>C	XP_011511048.1:p.Met142Thr
XM_017006277.2:c.2T>C	XP_016861766.1:p.Met1Thr
NM_000187.4:c.425T>C MANE Select	NP_000178.2:p.Met142Thr