Canonical Allele Identifier: CA2580078854
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2130468
ClinVar RCV Id: RCV003044559
gnomAD v4: 8-63072922-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072922G>A , CM000670.2:g.63072922G>A GRCh38
NC_000008.10:g.63985481G>A , CM000670.1:g.63985481G>A GRCh37
NC_000008.9:g.64148035G>A NCBI36
NG_016123.1:g.18132C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.358+13C>T MANE Select ENSP00000260116.4:n.358+13C>T
ENST00000260116.4:c.358+13C>T ENSP00000260116.4:n.358+13C>T
ENST00000521138.1:n.232+12896C>T
NM_000370.3:c.358+13C>T MANE Select NP_000361.1:n.358+13C>T
XM_006716468.2:c.205-8606C>T XP_006716531.1:n.205-8606C>T
XM_006716468.4:c.205-8606C>T XP_006716531.1:n.205-8606C>T
Search 100 bp 5'
Search 100 bp 3'