Canonical Allele Identifier: CA390610343

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273440-T-C
• MyVariant Identifiers: chr14:g.91739784T>C (hg19) ; chr14:g.91273440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273440T>C , CM000676.2:g.91273440T>C	GRCh38
NC_000014.8:g.91739784T>C , CM000676.1:g.91739784T>C	GRCh37
NC_000014.7:g.90809537T>C	NCBI36
NG_033118.1:g.149405A>G
NG_033118.2:g.149405A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5272A>G MANE Select	ENSP00000374507.6:p.Thr1758Ala
ENST00000331194.8:c.844A>G	ENSP00000330332.8:p.Thr282Ala
ENST00000389857.10:c.5272A>G	ENSP00000374507.6:p.Thr1758Ala
ENST00000556726.5:c.1500A>G
NM_001080414.3:c.5272A>G	NP_001073883.2:p.Thr1758Ala
XM_011536796.1:c.5164A>G	XP_011535098.1:p.Thr1722Ala
XM_011536796.2:c.5164A>G	XP_011535098.1:p.Thr1722Ala
XM_017021336.1:c.2353A>G	XP_016876825.1:p.Thr785Ala
NM_001080414.4:c.5272A>G MANE Select	NP_001073883.2:p.Thr1758Ala