Canonical Allele Identifier: CA2626126851
Gene: CCDC88C HGNC NCBI

Linked Data

gnomAD v4: 14-91272416-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272416C>A , CM000676.2:g.91272416C>A GRCh38
NC_000014.8:g.91738760C>A , CM000676.1:g.91738760C>A GRCh37
NC_000014.7:g.90808513C>A NCBI36
NG_033118.1:g.150429G>T
NG_033118.2:g.150429G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*209G>T MANE Select ENSP00000374507.6:n.*209G>T
ENST00000331194.8:c.*209G>T ENSP00000330332.8:n.*209G>T
ENST00000389857.10:c.*209G>T ENSP00000374507.6:n.*209G>T
ENST00000556726.5:c.2524G>T
NM_001080414.3:c.*209G>T NP_001073883.2:n.*209G>T
XM_011536796.1:c.*209G>T XP_011535098.1:n.*209G>T
XM_011536796.2:c.*209G>T XP_011535098.1:n.*209G>T
XM_017021336.1:c.*209G>T XP_016876825.1:n.*209G>T
NM_001080414.4:c.*209G>T MANE Select NP_001073883.2:n.*209G>T
Search 100 bp 5'
Search 100 bp 3'