Canonical Allele Identifier: CA2729892410
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1285080591

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91279153C>G , CM000676.2:g.91279153C>G GRCh38
NC_000014.8:g.91745497C>G , CM000676.1:g.91745497C>G GRCh37
NC_000014.7:g.90815250C>G NCBI36
NG_033118.1:g.143692G>C
NG_033118.2:g.143692G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.4768+85G>C MANE Select ENSP00000374507.6:n.4768+85G>C
ENST00000331194.8:c.340+85G>C ENSP00000330332.8:n.340+85G>C
ENST00000334448.5:n.580+85G>C
ENST00000389857.10:c.4768+85G>C ENSP00000374507.6:n.4768+85G>C
ENST00000556726.5:c.996+85G>C
ENST00000557455.1:n.740+85G>C
NM_001080414.3:c.4768+85G>C NP_001073883.2:n.4768+85G>C
XM_011536796.1:c.4660+85G>C XP_011535098.1:n.4660+85G>C
XR_429316.2:n.5043+85G>C
XM_011536796.2:c.4660+85G>C XP_011535098.1:n.4660+85G>C
XM_017021336.1:c.1849+85G>C XP_016876825.1:n.1849+85G>C
XR_429316.4:n.5041+85G>C
NM_001080414.4:c.4768+85G>C MANE Select NP_001073883.2:n.4768+85G>C