Canonical Allele Identifier: CA210615
Gene: TTLL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 139517
ClinVar RCV Id: RCV000128418 RCV001075160 RCV001093124
dbSNP Id: rs199882533
ExAC: 14:76231034 G / A
gnomAD v2: 14-76231034-G-A
gnomAD v3: 14-75764691-G-A
gnomAD v4: 14-75764691-G-A
MyVariant Identifiers: chr14:g.76231034G>A (hg19) chr14:g.75764691G>A (hg38)
PubMed: PMID:24791901
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75764691G>A , CM000676.2:g.75764691G>A GRCh38
NC_000014.8:g.76231034G>A , CM000676.1:g.76231034G>A GRCh37
NC_000014.7:g.75300787G>A NCBI36
NG_016974.1:g.108484G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000298832.14:c.1627G>A MANE Select ENSP00000298832.9:p.Glu543Lys
ENST00000298832.13:c.1627G>A ENSP00000298832.9:p.Glu543Lys
ENST00000554510.5:c.154G>A ENSP00000451946.1:p.Glu52Lys
ENST00000555422.5:n.933G>A
ENST00000556893.5:c.280G>A ENSP00000452524.1:p.Glu94Lys
ENST00000556976.1:n.361G>A
ENST00000557636.5:c.1669G>A ENSP00000450713.1:p.Glu557Lys
NM_015072.4:c.1627G>A NP_055887.3:p.Glu543Lys
NM_015072.5:c.1627G>A MANE Select NP_055887.3:p.Glu543Lys
Search 100 bp 5'
Search 100 bp 3'