Canonical Allele Identifier: CA354077990

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120369630A>C (hg19) ; chr3:g.120650783A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.425T>G MANE Select	ENSP00000283871.5:p.Met142Arg
ENST00000283871.9:c.425T>G	ENSP00000283871.5:p.Met142Arg
ENST00000476082.2:c.302T>G	ENSP00000419560.2:p.Met101Arg
ENST00000492108.5:c.56T>G	ENSP00000419838.1:p.Met19Arg
NM_000187.3:c.425T>G	NP_000178.2:p.Met142Arg
XM_005247412.1:c.425T>G	XP_005247469.1:p.Met142Arg
XM_005247413.1:c.425T>G	XP_005247470.1:p.Met142Arg
XM_005247414.3:c.425T>G	XP_005247471.1:p.Met142Arg
XM_011512746.1:c.425T>G	XP_011511048.1:p.Met142Arg
XM_005247412.2:c.425T>G	XP_005247469.1:p.Met142Arg
XM_005247413.2:c.425T>G	XP_005247470.1:p.Met142Arg
XM_005247414.5:c.425T>G	XP_005247471.1:p.Met142Arg
XM_011512746.2:c.425T>G	XP_011511048.1:p.Met142Arg
XM_017006277.2:c.2T>G	XP_016861766.1:p.Met1Arg
NM_000187.4:c.425T>G MANE Select	NP_000178.2:p.Met142Arg