Canonical Allele Identifier: CA390610891

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91739961A>G (hg19) ; chr14:g.91273617A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273617A>G , CM000676.2:g.91273617A>G	GRCh38
NC_000014.8:g.91739961A>G , CM000676.1:g.91739961A>G	GRCh37
NC_000014.7:g.90809714A>G	NCBI36
NG_033118.1:g.149228T>C
NG_033118.2:g.149228T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5095T>C MANE Select	ENSP00000374507.6:p.Tyr1699His
ENST00000331194.8:c.667T>C	ENSP00000330332.8:p.Tyr223His
ENST00000334448.5:n.907T>C
ENST00000389857.10:c.5095T>C	ENSP00000374507.6:p.Tyr1699His
ENST00000556726.5:c.1323T>C
NM_001080414.3:c.5095T>C	NP_001073883.2:p.Tyr1699His
XM_011536796.1:c.4987T>C	XP_011535098.1:p.Tyr1663His
XR_429316.2:n.5370T>C
XM_011536796.2:c.4987T>C	XP_011535098.1:p.Tyr1663His
XM_017021336.1:c.2176T>C	XP_016876825.1:p.Tyr726His
XR_429316.4:n.5368T>C
NM_001080414.4:c.5095T>C MANE Select	NP_001073883.2:p.Tyr1699His