Canonical Allele Identifier: CA371333646
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1480860
ClinVar RCV Id: RCV001994041
dbSNP Id: rs2129762477
gnomAD v4: 8-63072934-C-T
MyVariant Identifiers: chr8:g.63985493C>T (hg19) chr8:g.63072934C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072934C>T , CM000670.2:g.63072934C>T GRCh38
NC_000008.10:g.63985493C>T , CM000670.1:g.63985493C>T GRCh37
NC_000008.9:g.64148047C>T NCBI36
NG_016123.1:g.18120G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.358+1G>A MANE Select ENSP00000260116.4:n.358+1G>A
ENST00000260116.4:c.358+1G>A ENSP00000260116.4:n.358+1G>A
ENST00000521138.1:n.232+12884G>A
NM_000370.3:c.358+1G>A MANE Select NP_000361.1:n.358+1G>A
XM_006716468.2:c.205-8618G>A XP_006716531.1:n.205-8618G>A
XM_006716468.4:c.205-8618G>A XP_006716531.1:n.205-8618G>A
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