Canonical Allele Identifier: CA4763275
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1146209
ClinVar RCV Id: RCV001485371
dbSNP Id: rs374483216
ExAC: 8:63985501 G / A
gnomAD v2: 8-63985501-G-A
gnomAD v4: 8-63072942-G-A
MyVariant Identifiers: chr8:g.63985501G>A (hg19) chr8:g.63072942G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072942G>A , CM000670.2:g.63072942G>A GRCh38
NC_000008.10:g.63985501G>A , CM000670.1:g.63985501G>A GRCh37
NC_000008.9:g.64148055G>A NCBI36
NG_016123.1:g.18112C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.351C>T MANE Select ENSP00000260116.4:p.Tyr117=
ENST00000260116.4:c.351C>T ENSP00000260116.4:p.Tyr117=
ENST00000521138.1:n.232+12876C>T
NM_000370.3:c.351C>T MANE Select NP_000361.1:p.Tyr117=
XM_006716468.2:c.205-8626C>T XP_006716531.1:n.205-8626C>T
XM_006716468.4:c.205-8626C>T XP_006716531.1:n.205-8626C>T
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