Canonical Allele Identifier: CA120139
Gene: TTPA HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.63066056G>A
GRCh37 chr8:g.63978615G>A
gnomAD v2:
8:63978615 G / A
gnomAD v3:
8:63066056 G / A
gnomAD v4:
chr8-63066056-G-A
Joint Max Group AF 0.00006041 (NFE)
Genomes Max Group AF 0.00003769 (NFE)
Exomes Max Group AF 0.00005885 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63066056G>A , CM000670.2:g.63066056G>A GRCh38
NC_000008.10:g.63978615G>A , CM000670.1:g.63978615G>A GRCh37
NC_000008.9:g.64141169G>A NCBI36
NG_016123.1:g.24998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.400C>T MANE Select ENSP00000260116.4:p.Arg134Ter
ENST00000260116.4:c.400C>T ENSP00000260116.4:p.Arg134Ter
ENST00000521138.1:n.233-17453C>T
NM_000370.3:c.400C>T MANE Select NP_000361.1:p.Arg134Ter
XM_006716468.2:c.205-1740C>T XP_006716531.1:n.205-1740C>T
XM_006716468.4:c.205-1740C>T XP_006716531.1:n.205-1740C>T
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