Canonical Allele Identifier: CA392728304

Gene: APH1B

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261879.10:c.651T>C MANE Select	ENSP00000261879.5:p.Phe217=
ENST00000261879.9:c.651T>C	ENSP00000261879.5:p.Phe217=
ENST00000380340.8:c.*469T>C	ENSP00000369697.4:n.*469T>C
ENST00000380343.8:c.528T>C	ENSP00000369700.4:p.Phe176=
ENST00000559823.1:n.171-47T>C
ENST00000559971.5:c.787T>C	ENSP00000453516.1:n.787T>C
ENST00000560353.1:c.523T>C	ENSP00000453327.1:p.Tyr175His
ENST00000560716.1:n.485T>C
ENST00000560890.5:c.489T>C	ENSP00000453002.1:p.Phe163=
NM_001145646.1:c.528T>C	NP_001139118.1:p.Phe176=
NM_031301.3:c.651T>C	NP_112591.2:p.Phe217=
XM_024450085.1:c.489T>C	XP_024305853.1:p.Phe163=
XM_024450086.1:c.489T>C	XP_024305854.1:p.Phe163=
NM_031301.4:c.651T>C MANE Select	NP_112591.2:p.Phe217=
NM_001145646.2:c.528T>C	NP_001139118.1:p.Phe176=