Canonical Allele Identifier: CA854124972
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1109926
ClinVar RCV Id: RCV001435999
dbSNP Id: rs1246071482
gnomAD v4: 8-63072926-A-G
MyVariant Identifiers: chr8:g.63985485A>G (hg19) chr8:g.63072926A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072926A>G , CM000670.2:g.63072926A>G GRCh38
NC_000008.10:g.63985485A>G , CM000670.1:g.63985485A>G GRCh37
NC_000008.9:g.64148039A>G NCBI36
NG_016123.1:g.18128T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.358+9T>C MANE Select ENSP00000260116.4:n.358+9T>C
ENST00000260116.4:c.358+9T>C ENSP00000260116.4:n.358+9T>C
ENST00000521138.1:n.232+12892T>C
NM_000370.3:c.358+9T>C MANE Select NP_000361.1:n.358+9T>C
XM_006716468.2:c.205-8610T>C XP_006716531.1:n.205-8610T>C
XM_006716468.4:c.205-8610T>C XP_006716531.1:n.205-8610T>C
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