Canonical Allele Identifier: CA354073918

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120360467A>C (hg19) ; chr3:g.120641620A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641620A>C , CM000665.2:g.120641620A>C	GRCh38
NC_000003.11:g.120360467A>C , CM000665.1:g.120360467A>C	GRCh37
NC_000003.10:g.121843157A>C	NCBI36
NG_011957.1:g.45862T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.848T>G MANE Select	ENSP00000283871.5:p.Met283Arg
ENST00000283871.9:c.848T>G	ENSP00000283871.5:p.Met283Arg
ENST00000470321.1:n.188T>G
ENST00000475447.2:c.276T>G
ENST00000492108.5:c.254T>G	ENSP00000419838.1:p.Met85Arg
ENST00000494453.1:c.268T>G
NM_000187.3:c.848T>G	NP_000178.2:p.Met283Arg
XM_005247412.1:c.623T>G	XP_005247469.1:p.Met208Arg
XM_005247413.1:c.848T>G	XP_005247470.1:p.Met283Arg
XM_011512746.1:c.848T>G	XP_011511048.1:p.Met283Arg
XM_005247412.2:c.623T>G	XP_005247469.1:p.Met208Arg
XM_005247413.2:c.848T>G	XP_005247470.1:p.Met283Arg
XM_011512746.2:c.848T>G	XP_011511048.1:p.Met283Arg
XM_017006277.2:c.425T>G	XP_016861766.1:p.Met142Arg
NM_000187.4:c.848T>G MANE Select	NP_000178.2:p.Met283Arg