Canonical Allele Identifier: CA16609529
Gene: SLITRK5 HGNC NCBI

Linked Data

ClinVar Variation Id: 402167
ClinVar RCV Id: RCV000454171
dbSNP Id: rs1060499750
gnomAD v2: 13-88330158-G-C
gnomAD v3: 13-87677903-G-C
gnomAD v4: 13-87677903-G-C
COSMIC: COSM5627461 COSM5627462
MyVariant Identifiers: chr13:g.88330158G>C (hg19) chr13:g.87677903G>C (hg38)
PubMed: PMID:26539891
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.87677903G>C , CM000675.2:g.87677903G>C GRCh38
NC_000013.10:g.88330158G>C , CM000675.1:g.88330158G>C GRCh37
NC_000013.9:g.87128159G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000683689.1:c.2515G>C MANE Select ENSP00000508338.1:p.Glu839Gln
ENST00000325089.7:c.2515G>C ENSP00000366283.2:p.Glu839Gln
NM_015567.1:c.2515G>C NP_056382.1:p.Glu839Gln
XM_005254038.3:c.2515G>C XP_005254095.1:p.Glu839Gln
XM_005254039.1:c.2515G>C XP_005254096.1:p.Glu839Gln
XM_005254038.5:c.2515G>C XP_005254095.1:p.Glu839Gln
XM_005254039.2:c.2515G>C XP_005254096.1:p.Glu839Gln
NM_001384609.1:c.2515G>C MANE Select NP_001371538.1:p.Glu839Gln
NM_001384610.1:c.2515G>C NP_001371539.1:p.Glu839Gln
NM_015567.2:c.2515G>C NP_056382.1:p.Glu839Gln
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