Canonical Allele Identifier: CA4763282
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 2146071
ClinVar RCV Id: RCV003066942
dbSNP Id: rs200760380
ExAC: 8:63985557 C / T
gnomAD v2: 8-63985557-C-T
gnomAD v3: 8-63072998-C-T
gnomAD v4: 8-63072998-C-T
MyVariant Identifiers: chr8:g.63985557C>T (hg19) chr8:g.63072998C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072998C>T , CM000670.2:g.63072998C>T GRCh38
NC_000008.10:g.63985557C>T , CM000670.1:g.63985557C>T GRCh37
NC_000008.9:g.64148111C>T NCBI36
NG_016123.1:g.18056G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.295G>A MANE Select ENSP00000260116.4:p.Gly99Ser
ENST00000260116.4:c.295G>A ENSP00000260116.4:p.Gly99Ser
ENST00000521138.1:n.232+12820G>A
NM_000370.3:c.295G>A MANE Select NP_000361.1:p.Gly99Ser
XM_006716468.2:c.205-8682G>A XP_006716531.1:n.205-8682G>A
XM_006716468.4:c.205-8682G>A XP_006716531.1:n.205-8682G>A
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