Canonical Allele Identifier: CA371333669
Gene: TTPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.63985504A>C (hg19) chr8:g.63072945A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072945A>C , CM000670.2:g.63072945A>C GRCh38
NC_000008.10:g.63985504A>C , CM000670.1:g.63985504A>C GRCh37
NC_000008.9:g.64148058A>C NCBI36
NG_016123.1:g.18109T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.348T>G MANE Select ENSP00000260116.4:p.Ile116Met
ENST00000260116.4:c.348T>G ENSP00000260116.4:p.Ile116Met
ENST00000521138.1:n.232+12873T>G
NM_000370.3:c.348T>G MANE Select NP_000361.1:p.Ile116Met
XM_006716468.2:c.205-8629T>G XP_006716531.1:n.205-8629T>G
XM_006716468.4:c.205-8629T>G XP_006716531.1:n.205-8629T>G
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