Canonical Allele Identifier: CA2687441780
Gene: TTPA HGNC NCBI

Linked Data

gnomAD v4: 8-63072921-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072921T>A , CM000670.2:g.63072921T>A GRCh38
NC_000008.10:g.63985480T>A , CM000670.1:g.63985480T>A GRCh37
NC_000008.9:g.64148034T>A NCBI36
NG_016123.1:g.18133A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.358+14A>T MANE Select ENSP00000260116.4:n.358+14A>T
ENST00000260116.4:c.358+14A>T ENSP00000260116.4:n.358+14A>T
ENST00000521138.1:n.232+12897A>T
NM_000370.3:c.358+14A>T MANE Select NP_000361.1:n.358+14A>T
XM_006716468.2:c.205-8605A>T XP_006716531.1:n.205-8605A>T
XM_006716468.4:c.205-8605A>T XP_006716531.1:n.205-8605A>T
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