Canonical Allele Identifier: CA2667170811
Gene: HGD HGNC NCBI

Linked Data

gnomAD v4: 3-120633143-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633143T>C , CM000665.2:g.120633143T>C GRCh38
NC_000003.11:g.120351990T>C , CM000665.1:g.120351990T>C GRCh37
NC_000003.10:g.121834680T>C NCBI36
NG_011957.1:g.54339A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1188+4A>G MANE Select ENSP00000283871.5:n.1188+4A>G
ENST00000283871.9:c.1188+4A>G ENSP00000283871.5:n.1188+4A>G
ENST00000492108.5:c.467+4A>G ENSP00000419838.1:n.467+4A>G
NM_000187.3:c.1188+4A>G NP_000178.2:n.1188+4A>G
XM_005247412.1:c.963+4A>G XP_005247469.1:n.963+4A>G
XM_005247412.2:c.963+4A>G XP_005247469.1:n.963+4A>G
XM_017006277.2:c.765+4A>G XP_016861766.1:n.765+4A>G
NM_000187.4:c.1188+4A>G MANE Select NP_000178.2:n.1188+4A>G
Search 100 bp 5'
Search 100 bp 3'