Canonical Allele Identifier: CA2579176146
Gene: TTPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072913A>T , CM000670.2:g.63072913A>T GRCh38
NC_000008.10:g.63985472A>T , CM000670.1:g.63985472A>T GRCh37
NC_000008.9:g.64148026A>T NCBI36
NG_016123.1:g.18141T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.358+22T>A MANE Select ENSP00000260116.4:n.358+22T>A
ENST00000260116.4:c.358+22T>A ENSP00000260116.4:n.358+22T>A
ENST00000521138.1:n.232+12905T>A
NM_000370.3:c.358+22T>A MANE Select NP_000361.1:n.358+22T>A
XM_006716468.2:c.205-8597T>A XP_006716531.1:n.205-8597T>A
XM_006716468.4:c.205-8597T>A XP_006716531.1:n.205-8597T>A