Canonical Allele Identifier: CA2639622396
Gene: COG1 HGNC NCBI

Linked Data

gnomAD v4: 17-73193390-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73193390T>G , CM000679.2:g.73193390T>G GRCh38
NC_000017.10:g.71189529T>G , CM000679.1:g.71189529T>G GRCh37
NC_000017.9:g.68701124T>G NCBI36
NG_008971.1:g.5357T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.315+6T>G MANE Select ENSP00000299886.4:n.315+6T>G
ENST00000299886.8:c.315+6T>G ENSP00000299886.4:n.315+6T>G
ENST00000438720.7:c.313+6T>G
ENST00000582587.2:c.292+6T>G
ENST00000618996.4:c.315+6T>G ENSP00000479450.1:n.315+6T>G
NM_018714.2:c.315+6T>G NP_061184.1:n.315+6T>G
NM_018714.3:c.315+6T>G MANE Select NP_061184.1:n.315+6T>G
Search 100 bp 5'
Search 100 bp 3'