Canonical Allele Identifier: CA371333786
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1395076
ClinVar RCV Id: RCV001927541
dbSNP Id: rs747563020
gnomAD v4: 8-63073001-C-A
MyVariant Identifiers: chr8:g.63985560C>A (hg19) chr8:g.63073001C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63073001C>A , CM000670.2:g.63073001C>A GRCh38
NC_000008.10:g.63985560C>A , CM000670.1:g.63985560C>A GRCh37
NC_000008.9:g.64148114C>A NCBI36
NG_016123.1:g.18053G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.292G>T MANE Select ENSP00000260116.4:p.Ala98Ser
ENST00000260116.4:c.292G>T ENSP00000260116.4:p.Ala98Ser
ENST00000521138.1:n.232+12817G>T
NM_000370.3:c.292G>T MANE Select NP_000361.1:p.Ala98Ser
XM_006716468.2:c.205-8685G>T XP_006716531.1:n.205-8685G>T
XM_006716468.4:c.205-8685G>T XP_006716531.1:n.205-8685G>T
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