Canonical Allele Identifier: CA390608445
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272799C>A , CM000676.2:g.91272799C>A GRCh38
NC_000014.8:g.91739143C>A , CM000676.1:g.91739143C>A GRCh37
NC_000014.7:g.90808896C>A NCBI36
NG_033118.1:g.150046G>T
NG_033118.2:g.150046G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5913G>T MANE Select ENSP00000374507.6:p.Gln1971His
ENST00000331194.8:c.1347G>T ENSP00000330332.8:p.Gln449His
ENST00000389857.10:c.5913G>T ENSP00000374507.6:p.Gln1971His
ENST00000556726.5:c.2141G>T
NM_001080414.3:c.5913G>T NP_001073883.2:p.Gln1971His
XM_011536796.1:c.5805G>T XP_011535098.1:p.Gln1935His
XM_011536796.2:c.5805G>T XP_011535098.1:p.Gln1935His
XM_017021336.1:c.2994G>T XP_016876825.1:p.Gln998His
NM_001080414.4:c.5913G>T MANE Select NP_001073883.2:p.Gln1971His