Canonical Allele Identifier: CA4763271
Gene: TTPA HGNC NCBI

Linked Data

dbSNP Id: rs765051181
gnomAD v2: 8-63985487-G-A
gnomAD v4: 8-63072928-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072928G>A , CM000670.2:g.63072928G>A GRCh38
NC_000008.10:g.63985487G>A , CM000670.1:g.63985487G>A GRCh37
NC_000008.9:g.64148041G>A NCBI36
NG_016123.1:g.18126C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.358+7C>T MANE Select ENSP00000260116.4:n.358+7C>T
ENST00000260116.4:c.358+7C>T ENSP00000260116.4:n.358+7C>T
ENST00000521138.1:n.232+12890C>T
NM_000370.3:c.358+7C>T MANE Select NP_000361.1:n.358+7C>T
XM_006716468.2:c.205-8612C>T XP_006716531.1:n.205-8612C>T
XM_006716468.4:c.205-8612C>T XP_006716531.1:n.205-8612C>T