Canonical Allele Identifier: CA2526119458

Gene: CEP164

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117317246C>A , CM000673.2:g.117317246C>A	GRCh38
NC_000011.9:g.117187962C>A , CM000673.1:g.117187962C>A	GRCh37
NC_000011.8:g.116693172C>A	NCBI36
NG_029372.1:g.4011G>T
NG_033032.1:g.469C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525734.5:c.-98+2518C>A	ENSP00000436609.1:n.-98+2518C>A
XM_017017364.1:c.-98+713C>A	XP_016872853.1:n.-98+713C>A