Canonical Allele Identifier: CA4763263

Gene: TTPA

Linked Data

• dbSNP Id: rs772541661
• ExAC: 8:63985458 G / A
• gnomAD v2: 8-63985458-G-A
• gnomAD v4: 8-63072899-G-A
• MyVariant Identifiers: chr8:g.63985458G>A (hg19) ; chr8:g.63072899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63072899G>A , CM000670.2:g.63072899G>A	GRCh38
NC_000008.10:g.63985458G>A , CM000670.1:g.63985458G>A	GRCh37
NC_000008.9:g.64148012G>A	NCBI36
NG_016123.1:g.18155C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260116.5:c.358+36C>T MANE Select	ENSP00000260116.4:n.358+36C>T
ENST00000260116.4:c.358+36C>T	ENSP00000260116.4:n.358+36C>T
ENST00000521138.1:n.232+12919C>T
NM_000370.3:c.358+36C>T MANE Select	NP_000361.1:n.358+36C>T
XM_006716468.2:c.205-8583C>T	XP_006716531.1:n.205-8583C>T
XM_006716468.4:c.205-8583C>T	XP_006716531.1:n.205-8583C>T