Canonical Allele Identifier: CA461144502
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1568682
ClinVar RCV Id: RCV002218535
dbSNP Id: rs2129762717
MyVariant Identifiers: chr8:g.63985558A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072999A>G , CM000670.2:g.63072999A>G GRCh38
NC_000008.10:g.63985558A>G , CM000670.1:g.63985558A>G GRCh37
NC_000008.9:g.64148112A>G NCBI36
NG_016123.1:g.18055T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.294T>C MANE Select ENSP00000260116.4:p.Ala98=
ENST00000260116.4:c.294T>C ENSP00000260116.4:p.Ala98=
ENST00000521138.1:n.232+12819T>C
NM_000370.3:c.294T>C MANE Select NP_000361.1:p.Ala98=
XM_006716468.2:c.205-8683T>C XP_006716531.1:n.205-8683T>C
XM_006716468.4:c.205-8683T>C XP_006716531.1:n.205-8683T>C
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