Canonical Allele Identifier: CA13995672
Gene: TTLL5 HGNC NCBI
COSMIC:
COSN164741
dbSNP:
1005224
gnomAD v2:
14:76173860 T / A
gnomAD v3:
14:75707517 T / A
gnomAD v4:
chr14-75707517-T-A
Joint Max Group AF 0.69192093 (NFE)
Genomes Max Group AF 0.68734035 (NFE)
Exomes Max Group AF 0.69196225 (NFE)
MyVariant.info:
GRCh38 chr14:g.75707517T>A
GRCh37 chr14:g.76173860T>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75707517T>A , CM000676.2:g.75707517T>A GRCh38
NC_000014.8:g.76173860T>A , CM000676.1:g.76173860T>A GRCh37
NC_000014.7:g.75243613T>A NCBI36
NG_016974.1:g.51310T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298832.14:c.656-106T>A MANE Select ENSP00000298832.9:n.656-106T>A
ENST00000286650.9:c.656-106T>A ENSP00000286650.5:n.656-106T>A
ENST00000298832.13:c.656-106T>A ENSP00000298832.9:n.656-106T>A
ENST00000555422.5:n.125-106T>A
ENST00000556173.5:n.582-106T>A
ENST00000557636.5:c.656-106T>A ENSP00000450713.1:n.656-106T>A
NM_015072.4:c.656-106T>A NP_055887.3:n.656-106T>A
NM_015072.5:c.656-106T>A MANE Select NP_055887.3:n.656-106T>A
Search 100 bp 5'
Search 100 bp 3'