Canonical Allele Identifier: CA7308542
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs45560241

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272732G>A , CM000676.2:g.91272732G>A GRCh38
NC_000014.8:g.91739076G>A , CM000676.1:g.91739076G>A GRCh37
NC_000014.7:g.90808829G>A NCBI36
NG_033118.1:g.150113C>T
NG_033118.2:g.150113C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5980C>T MANE Select ENSP00000374507.6:p.Arg1994Trp
ENST00000331194.8:c.1414C>T ENSP00000330332.8:p.Arg472Trp
ENST00000389857.10:c.5980C>T ENSP00000374507.6:p.Arg1994Trp
ENST00000556726.5:c.2208C>T
NM_001080414.3:c.5980C>T NP_001073883.2:p.Arg1994Trp
XM_011536796.1:c.5872C>T XP_011535098.1:p.Arg1958Trp
XM_011536796.2:c.5872C>T XP_011535098.1:p.Arg1958Trp
XM_017021336.1:c.3061C>T XP_016876825.1:p.Arg1021Trp
NM_001080414.4:c.5980C>T MANE Select NP_001073883.2:p.Arg1994Trp