Canonical Allele Identifier: CA49687640

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70936147G>A , CM000664.2:g.70936147G>A	GRCh38
NC_000002.11:g.71163277G>A , CM000664.1:g.71163277G>A	GRCh37
NC_000002.10:g.71016785G>A	NCBI36
NG_008016.1:g.5280G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.118+75G>A (ATP6V1B1) MANE Select	NP_001683.2:n.118+75G>A
ENST00000234396.10:c.118+75G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:n.118+75G>A
NM_001692.3:c.118+75G>A (ATP6V1B1)	NP_001683.2:n.118+75G>A
ENST00000234396.8:c.118+75G>A (ATP6V1B1)	ENSP00000234396.4:n.118+75G>A
ENST00000412314.5:c.118+75G>A (ATP6V1B1)	ENSP00000388353.1:n.118+75G>A
ENST00000432367.5:c.118+75G>A (ATP6V1B1)	ENSP00000405114.1:n.118+75G>A
ENST00000432367.6:c.323-7511G>A (VAX2)
ENST00000454446.6:c.118+75G>A (ATP6V1B1)	ENSP00000408361.2:n.118+75G>A
ENST00000646783.1:c.80-3271G>A (VAX2)