Canonical Allele Identifier: CA7279463
Gene: TTLL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1929114
ClinVar RCV Id: RCV002642302
dbSNP Id: rs768672353
ExAC: 14:76230955 T / C
gnomAD v2: 14-76230955-T-C
MyVariant Identifiers: chr14:g.76230955T>C (hg19) chr14:g.75764612T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75764612T>C , CM000676.2:g.75764612T>C GRCh38
NC_000014.8:g.76230955T>C , CM000676.1:g.76230955T>C GRCh37
NC_000014.7:g.75300708T>C NCBI36
NG_016974.1:g.108405T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298832.14:c.1551-3T>C MANE Select ENSP00000298832.9:n.1551-3T>C
ENST00000298832.13:c.1551-3T>C ENSP00000298832.9:n.1551-3T>C
ENST00000554510.5:c.78-3T>C ENSP00000451946.1:n.78-3T>C
ENST00000555422.5:n.857-3T>C
ENST00000556893.5:c.204-3T>C ENSP00000452524.1:n.204-3T>C
ENST00000556976.1:n.285-3T>C
ENST00000557636.5:c.1593-3T>C ENSP00000450713.1:n.1593-3T>C
NM_015072.4:c.1551-3T>C NP_055887.3:n.1551-3T>C
NM_015072.5:c.1551-3T>C MANE Select NP_055887.3:n.1551-3T>C
Search 100 bp 5'
Search 100 bp 3'