Canonical Allele Identifier: CA1397090683
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 2584714
ClinVar RCV Id: RCV003336682
dbSNP Id: rs1940642048
gnomAD v4: 3-120633139-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633139A>T , CM000665.2:g.120633139A>T GRCh38
NC_000003.11:g.120351986A>T , CM000665.1:g.120351986A>T GRCh37
NC_000003.10:g.121834676A>T NCBI36
NG_011957.1:g.54343T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1188+8T>A MANE Select ENSP00000283871.5:n.1188+8T>A
ENST00000283871.9:c.1188+8T>A ENSP00000283871.5:n.1188+8T>A
ENST00000492108.5:c.467+8T>A ENSP00000419838.1:n.467+8T>A
NM_000187.3:c.1188+8T>A NP_000178.2:n.1188+8T>A
XM_005247412.1:c.963+8T>A XP_005247469.1:n.963+8T>A
XM_005247412.2:c.963+8T>A XP_005247469.1:n.963+8T>A
XM_017006277.2:c.765+8T>A XP_016861766.1:n.765+8T>A
NM_000187.4:c.1188+8T>A MANE Select NP_000178.2:n.1188+8T>A
Search 100 bp 5'
Search 100 bp 3'