Canonical Allele Identifier: CA2662731909

Gene: NBEAL1

Linked Data

• gnomAD v4: 2-203016266-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203016266T>C , CM000664.2:g.203016266T>C	GRCh38
NC_000002.11:g.203880989T>C , CM000664.1:g.203880989T>C	GRCh37
NC_000002.10:g.203589234T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463830.2:n.226T>C
ENST00000682077.1:n.228T>C
ENST00000682333.1:n.226T>C
ENST00000682787.1:c.-119T>C	ENSP00000507858.1:n.-119T>C
ENST00000683091.1:c.-119T>C	ENSP00000506951.1:n.-119T>C
ENST00000683927.1:n.215T>C
ENST00000683969.1:c.-119T>C MANE Select	ENSP00000508055.1:n.-119T>C
ENST00000449802.5:c.-119T>C	ENSP00000399903.1:n.-119T>C
ENST00000478884.5:n.169T>C
ENST00000492870.1:n.185T>C
ENST00000497505.5:n.215T>C
NM_001114132.1:c.-119T>C	NP_001107604.1:n.-119T>C
XM_005246787.2:c.-119T>C	XP_005246844.1:n.-119T>C
XM_006712698.2:c.-119T>C	XP_006712761.1:n.-119T>C
XM_006712699.2:c.-119T>C	XP_006712762.1:n.-119T>C
XM_006712700.2:c.-119T>C	XP_006712763.1:n.-119T>C
XM_011511658.1:c.-119T>C	XP_011509960.1:n.-119T>C
XM_011511659.1:c.-119T>C	XP_011509961.1:n.-119T>C
XM_011511663.1:c.-119T>C	XP_011509965.1:n.-119T>C
XM_011511664.1:c.-119T>C	XP_011509966.1:n.-119T>C
XM_005246787.4:c.-119T>C	XP_005246844.1:n.-119T>C
XM_006712698.4:c.-119T>C	XP_006712761.1:n.-119T>C
XM_006712699.4:c.-119T>C	XP_006712762.1:n.-119T>C
XM_011511658.3:c.-119T>C	XP_011509960.1:n.-119T>C
XM_011511659.2:c.-119T>C	XP_011509961.1:n.-119T>C
XM_011511663.3:c.-119T>C	XP_011509965.1:n.-119T>C
NM_001114132.2:c.-119T>C	NP_001107604.1:n.-119T>C
NM_001378026.1:c.-119T>C MANE Select	NP_001364955.1:n.-119T>C