Canonical Allele Identifier: CA55664343

Gene: CNTNAP5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.124225479T>C , CM000664.2:g.124225479T>C	GRCh38
NC_000002.11:g.124983056T>C , CM000664.1:g.124983056T>C	GRCh37
NC_000002.10:g.124699526T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682447.1:c.187+3670T>C MANE Select	ENSP00000508115.1:n.187+3670T>C
ENST00000431078.1:c.187+3670T>C	ENSP00000399013.1:n.187+3670T>C
ENST00000470921.1:n.105+3670T>C
NM_130773.3:c.187+3670T>C	NP_570129.1:n.187+3670T>C
XM_006712258.1:c.187+3670T>C	XP_006712321.1:n.187+3670T>C
XM_017003316.1:c.187+3670T>C	XP_016858805.1:n.187+3670T>C
NM_001367498.1:c.187+3670T>C MANE Select	NP_001354427.1:n.187+3670T>C
NM_130773.4:c.187+3670T>C	NP_570129.1:n.187+3670T>C