Canonical Allele Identifier: CA272052864

Gene: APH1B

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63305658T>A , CM000677.2:g.63305658T>A	GRCh38
NC_000015.9:g.63597857T>A , CM000677.1:g.63597857T>A	GRCh37
NC_000015.8:g.61384910T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261879.10:c.651T>A MANE Select	ENSP00000261879.5:p.Phe217Leu
ENST00000261879.9:c.651T>A	ENSP00000261879.5:p.Phe217Leu
ENST00000380340.8:c.*469T>A	ENSP00000369697.4:n.*469T>A
ENST00000380343.8:c.528T>A	ENSP00000369700.4:p.Phe176Leu
ENST00000559823.1:n.171-47T>A
ENST00000559971.5:c.787T>A	ENSP00000453516.1:n.787T>A
ENST00000560353.1:c.523T>A	ENSP00000453327.1:p.Tyr175Asn
ENST00000560716.1:n.485T>A
ENST00000560890.5:c.489T>A	ENSP00000453002.1:p.Phe163Leu
NM_001145646.1:c.528T>A	NP_001139118.1:p.Phe176Leu
NM_031301.3:c.651T>A	NP_112591.2:p.Phe217Leu
XM_024450085.1:c.489T>A	XP_024305853.1:p.Phe163Leu
XM_024450086.1:c.489T>A	XP_024305854.1:p.Phe163Leu
NM_031301.4:c.651T>A MANE Select	NP_112591.2:p.Phe217Leu
NM_001145646.2:c.528T>A	NP_001139118.1:p.Phe176Leu