Canonical Allele Identifier: CA16041182
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 370354
ClinVar RCV Id: RCV000410232
dbSNP Id: rs1057516423

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072980T>A , CM000670.2:g.63072980T>A GRCh38
NC_000008.10:g.63985539T>A , CM000670.1:g.63985539T>A GRCh37
NC_000008.9:g.64148093T>A NCBI36
NG_016123.1:g.18074A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.313A>T MANE Select ENSP00000260116.4:p.Arg105Ter
ENST00000260116.4:c.313A>T ENSP00000260116.4:p.Arg105Ter
ENST00000521138.1:n.232+12838A>T
NM_000370.3:c.313A>T MANE Select NP_000361.1:p.Arg105Ter
XM_006716468.2:c.205-8664A>T XP_006716531.1:n.205-8664A>T
XM_006716468.4:c.205-8664A>T XP_006716531.1:n.205-8664A>T