Canonical Allele Identifier: CA2780587729
Gene: TTPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072916A>G , CM000670.2:g.63072916A>G GRCh38
NC_000008.10:g.63985475A>G , CM000670.1:g.63985475A>G GRCh37
NC_000008.9:g.64148029A>G NCBI36
NG_016123.1:g.18138T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.358+19T>C MANE Select ENSP00000260116.4:n.358+19T>C
ENST00000260116.4:c.358+19T>C ENSP00000260116.4:n.358+19T>C
ENST00000521138.1:n.232+12902T>C
NM_000370.3:c.358+19T>C MANE Select NP_000361.1:n.358+19T>C
XM_006716468.2:c.205-8600T>C XP_006716531.1:n.205-8600T>C
XM_006716468.4:c.205-8600T>C XP_006716531.1:n.205-8600T>C