Canonical Allele Identifier: CA371333666
Gene: TTPA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072944A>T , CM000670.2:g.63072944A>T GRCh38
NC_000008.10:g.63985503A>T , CM000670.1:g.63985503A>T GRCh37
NC_000008.9:g.64148057A>T NCBI36
NG_016123.1:g.18110T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.349T>A MANE Select ENSP00000260116.4:p.Tyr117Asn
ENST00000260116.4:c.349T>A ENSP00000260116.4:p.Tyr117Asn
ENST00000521138.1:n.232+12874T>A
NM_000370.3:c.349T>A MANE Select NP_000361.1:p.Tyr117Asn
XM_006716468.2:c.205-8628T>A XP_006716531.1:n.205-8628T>A
XM_006716468.4:c.205-8628T>A XP_006716531.1:n.205-8628T>A