Canonical Allele Identifier: CA97585713
Gene: CEP135 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56012088G>T , CM000666.2:g.56012088G>T GRCh38
NC_000004.11:g.56878254G>T , CM000666.1:g.56878254G>T GRCh37
NC_000004.10:g.56573011G>T NCBI36
NG_032806.1:g.68281G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025009.5:c.2802+103G>T MANE Select NP_079285.2:n.2802+103G>T
ENST00000257287.5:c.2802+103G>T MANE Select ENSP00000257287.3:n.2802+103G>T
NM_025009.4:c.2802+103G>T NP_079285.2:n.2802+103G>T
ENST00000257287.4:c.2802+103G>T ENSP00000257287.3:n.2802+103G>T
ENST00000506202.1:n.2752+103G>T
ENST00000706801.1:n.867+103G>T
XM_005265788.2:c.1731+103G>T XP_005265845.1:n.1731+103G>T
XM_005265788.4:c.1731+103G>T XP_005265845.1:n.1731+103G>T
XM_006714055.2:c.2769+103G>T XP_006714118.1:n.2769+103G>T
XM_006714055.3:c.2769+103G>T XP_006714118.1:n.2769+103G>T
XM_011534412.1:c.1272+103G>T XP_011532714.1:n.1272+103G>T
XM_011534412.2:c.1272+103G>T XP_011532714.1:n.1272+103G>T