Canonical Allele Identifier: CA2610210159
Gene: PDE6C HGNC NCBI

Linked Data

gnomAD v4: 10-93626750-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93626750T>G , CM000672.2:g.93626750T>G GRCh38
NC_000010.10:g.95386507T>G , CM000672.1:g.95386507T>G GRCh37
NC_000010.9:g.95376497T>G NCBI36
NG_016752.1:g.19163T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371447.4:c.1004+46T>G MANE Select ENSP00000360502.3:n.1004+46T>G
ENST00000371447.3:c.1004+46T>G ENSP00000360502.3:n.1004+46T>G
NM_006204.3:c.1004+46T>G NP_006195.3:n.1004+46T>G
NM_006204.4:c.1004+46T>G MANE Select NP_006195.3:n.1004+46T>G
Search 100 bp 5'
Search 100 bp 3'