Canonical Allele Identifier: CA1397090686
Gene: HGD HGNC NCBI

Linked Data

dbSNP Id: rs1940642196
gnomAD v4: 3-120633141-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633141A>G , CM000665.2:g.120633141A>G GRCh38
NC_000003.11:g.120351988A>G , CM000665.1:g.120351988A>G GRCh37
NC_000003.10:g.121834678A>G NCBI36
NG_011957.1:g.54341T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1188+6T>C MANE Select ENSP00000283871.5:n.1188+6T>C
ENST00000283871.9:c.1188+6T>C ENSP00000283871.5:n.1188+6T>C
ENST00000492108.5:c.467+6T>C ENSP00000419838.1:n.467+6T>C
NM_000187.3:c.1188+6T>C NP_000178.2:n.1188+6T>C
XM_005247412.1:c.963+6T>C XP_005247469.1:n.963+6T>C
XM_005247412.2:c.963+6T>C XP_005247469.1:n.963+6T>C
XM_017006277.2:c.765+6T>C XP_016861766.1:n.765+6T>C
NM_000187.4:c.1188+6T>C MANE Select NP_000178.2:n.1188+6T>C
Search 100 bp 5'
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