Canonical Allele Identifier: CA588334005

Gene: APBA1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69488398G>T , CM000671.2:g.69488398G>T	GRCh38
NC_000009.11:g.72103314G>T , CM000671.1:g.72103314G>T	GRCh37
NC_000009.10:g.71293134G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699288.1:c.45+6940C>A	ENSP00000514269.1:n.45+6940C>A
ENST00000265381.7:c.1201-12255C>A MANE Select	ENSP00000265381.3:n.1201-12255C>A
ENST00000265381.6:c.1201-12255C>A	ENSP00000265381.3:n.1201-12255C>A
NM_001163.3:c.1201-12255C>A	NP_001154.2:n.1201-12255C>A
XM_005251968.2:c.1201-12255C>A	XP_005252025.1:n.1201-12255C>A
XM_006717093.2:c.1201-12255C>A	XP_006717156.1:n.1201-12255C>A
XM_011518617.1:c.1201-12255C>A	XP_011516919.1:n.1201-12255C>A
XM_005251968.3:c.1201-12255C>A	XP_005252025.1:n.1201-12255C>A
XM_011518617.2:c.1201-12255C>A	XP_011516919.1:n.1201-12255C>A
XM_017014670.1:c.1201-12255C>A	XP_016870159.1:n.1201-12255C>A
NM_001163.4:c.1201-12255C>A MANE Select	NP_001154.2:n.1201-12255C>A