Canonical Allele Identifier: CA1259810608
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Linked Data

dbSNP Id: rs1553419352

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70958032T>C , CM000664.2:g.70958032T>C GRCh38
NC_000002.11:g.71185162T>C , CM000664.1:g.71185162T>C GRCh37
NC_000002.10:g.71038670T>C NCBI36
NG_008016.1:g.27165T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000234396.10:c.175-14T>C (ATP6V1B1) MANE Select ENSP00000234396.4:n.175-14T>C
ENST00000432098.2:n.341-14T>C (ATP6V1B1)
ENST00000432367.6:c.379-14T>C (VAX2)
ENST00000454446.6:c.175-14T>C (ATP6V1B1) ENSP00000408361.2:n.175-14T>C
ENST00000646783.1:c.211-14T>C (VAX2)
ENST00000234396.8:c.175-14T>C (ATP6V1B1) ENSP00000234396.4:n.175-14T>C
ENST00000412314.5:c.175-14T>C (ATP6V1B1) ENSP00000388353.1:n.175-14T>C
ENST00000432098.1:c.-186-14T>C (ATP6V1B1) ENSP00000387599.1:n.-186-14T>C
ENST00000432367.5:c.175-14T>C (ATP6V1B1) ENSP00000405114.1:n.175-14T>C
ENST00000453130.1:c.143-9657A>G
ENST00000454446.5:c.226-14T>C (ATP6V1B1) ENSP00000408361.1:n.226-14T>C
ENST00000463380.1:n.262T>C (ATP6V1B1)
ENST00000606025.5:c.476-15599A>G ENSP00000475641.1:n.476-15599A>G
NM_001692.3:c.175-14T>C (ATP6V1B1) NP_001683.2:n.175-14T>C
XM_011532907.1:c.295-14T>C (ATP6V1B1) XP_011531209.1:n.295-14T>C
NM_001692.4:c.175-14T>C (ATP6V1B1) MANE Select NP_001683.2:n.175-14T>C
XM_011532907.2:c.295-14T>C (ATP6V1B1) XP_011531209.1:n.295-14T>C