Canonical Allele Identifier: CA371331610
Gene: TTPA HGNC NCBI

Linked Data

dbSNP Id: rs1805301336
gnomAD v4: 8-63061257-G-A
MyVariant Identifiers: chr8:g.63973816G>A (hg19) chr8:g.63061257G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63061257G>A , CM000670.2:g.63061257G>A GRCh38
NC_000008.10:g.63973816G>A , CM000670.1:g.63973816G>A GRCh37
NC_000008.9:g.64136370G>A NCBI36
NG_016123.1:g.29797C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.832C>T MANE Select ENSP00000260116.4:p.Gln278Ter
ENST00000260116.4:c.832C>T ENSP00000260116.4:p.Gln278Ter
ENST00000521138.1:n.233-12654C>T
NM_000370.3:c.832C>T MANE Select NP_000361.1:p.Gln278Ter
XM_006716468.2:c.484C>T XP_006716531.1:p.Gln162Ter
XM_006716468.4:c.484C>T XP_006716531.1:p.Gln162Ter
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