Canonical Allele Identifier: CA16040890
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 370198
ClinVar RCV Id: RCV000411569
dbSNP Id: rs1057516307

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120646265A>G , CM000665.2:g.120646265A>G GRCh38
NC_000003.11:g.120365112A>G , CM000665.1:g.120365112A>G GRCh37
NC_000003.10:g.121847802A>G NCBI36
NG_011957.1:g.41217T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.649+2T>C MANE Select ENSP00000283871.5:n.649+2T>C
ENST00000283871.9:c.649+2T>C ENSP00000283871.5:n.649+2T>C
ENST00000475447.2:c.180+2T>C
ENST00000492108.5:c.180+708T>C ENSP00000419838.1:n.180+708T>C
ENST00000494453.1:c.69+2T>C
NM_000187.3:c.649+2T>C NP_000178.2:n.649+2T>C
XM_005247412.1:c.549+708T>C XP_005247469.1:n.549+708T>C
XM_005247413.1:c.649+2T>C XP_005247470.1:n.649+2T>C
XM_005247414.3:c.649+2T>C XP_005247471.1:n.649+2T>C
XM_011512746.1:c.649+2T>C XP_011511048.1:n.649+2T>C
XM_005247412.2:c.549+708T>C XP_005247469.1:n.549+708T>C
XM_005247413.2:c.649+2T>C XP_005247470.1:n.649+2T>C
XM_005247414.5:c.649+2T>C XP_005247471.1:n.649+2T>C
XM_011512746.2:c.649+2T>C XP_011511048.1:n.649+2T>C
XM_017006277.2:c.226+2T>C XP_016861766.1:n.226+2T>C
NM_000187.4:c.649+2T>C MANE Select NP_000178.2:n.649+2T>C