Canonical Allele Identifier: CA390607933

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91738983A>G (hg19) ; chr14:g.91272639A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272639A>G , CM000676.2:g.91272639A>G	GRCh38
NC_000014.8:g.91738983A>G , CM000676.1:g.91738983A>G	GRCh37
NC_000014.7:g.90808736A>G	NCBI36
NG_033118.1:g.150206T>C
NG_033118.2:g.150206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6073T>C MANE Select	ENSP00000374507.6:p.Tyr2025His
ENST00000331194.8:c.1507T>C	ENSP00000330332.8:p.Tyr503His
ENST00000389857.10:c.6073T>C	ENSP00000374507.6:p.Tyr2025His
ENST00000556726.5:c.2301T>C
NM_001080414.3:c.6073T>C	NP_001073883.2:p.Tyr2025His
XM_011536796.1:c.5965T>C	XP_011535098.1:p.Tyr1989His
XM_011536796.2:c.5965T>C	XP_011535098.1:p.Tyr1989His
XM_017021336.1:c.3154T>C	XP_016876825.1:p.Tyr1052His
NM_001080414.4:c.6073T>C MANE Select	NP_001073883.2:p.Tyr2025His