Canonical Allele Identifier: CA461144501
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2752699
ClinVar RCV Id: RCV003566540
MyVariant Identifiers: chr8:g.63985558A>C (hg19)
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Genomic Alleles

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

Transcript Alleles

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