Canonical Allele Identifier: CA277984
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 188735
dbSNP Id: rs143370662

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120628382A>G , CM000665.2:g.120628382A>G GRCh38
NC_000003.11:g.120347229A>G , CM000665.1:g.120347229A>G GRCh37
NC_000003.10:g.121829919A>G NCBI36
NG_011957.1:g.59100T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1336T>C MANE Select ENSP00000283871.5:p.Ter446Arg
ENST00000283871.9:c.1336T>C ENSP00000283871.5:p.Ter446Arg
ENST00000492108.5:c.615T>C ENSP00000419838.1:n.615T>C
NM_000187.3:c.1336T>C NP_000178.2:p.Ter446Arg
XM_005247412.1:c.1111T>C XP_005247469.1:p.Ter371Arg
XM_005247412.2:c.1111T>C XP_005247469.1:p.Ter371Arg
XM_017006277.2:c.913T>C XP_016861766.1:p.Ter305Arg
NM_000187.4:c.1336T>C MANE Select NP_000178.2:p.Ter446Arg