Canonical Allele Identifier: CA2657912222
Gene: NBAS HGNC NCBI

Linked Data

gnomAD v4: 2-15424569-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15424569A>G , CM000664.2:g.15424569A>G GRCh38
NC_000002.11:g.15564693A>G , CM000664.1:g.15564693A>G GRCh37
NC_000002.10:g.15482144A>G NCBI36
NG_032964.1:g.141780T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.521-101T>C
ENST00000700062.1:c.521-101T>C
ENST00000700065.1:n.2437-101T>C
ENST00000700066.1:c.1941-101T>C ENSP00000514780.1:n.1941-101T>C
ENST00000281513.10:c.2424-101T>C MANE Select ENSP00000281513.5:n.2424-101T>C
ENST00000281513.9:c.2424-101T>C ENSP00000281513.5:n.2424-101T>C
NM_015909.3:c.2424-101T>C NP_056993.2:n.2424-101T>C
NR_052013.2:n.2468-101T>C
XM_011510357.1:c.2295-101T>C XP_011508659.1:n.2295-101T>C
XM_011510358.1:c.2424-101T>C XP_011508660.1:n.2424-101T>C
XM_011510359.1:c.1785-101T>C XP_011508661.1:n.1785-101T>C
XM_011510360.1:c.225-101T>C XP_011508662.1:n.225-101T>C
XM_011510361.1:c.216-101T>C XP_011508663.1:n.216-101T>C
XM_011510357.2:c.2295-101T>C XP_011508659.1:n.2295-101T>C
XM_011510358.2:c.2424-101T>C XP_011508660.1:n.2424-101T>C
XM_011510360.2:c.225-101T>C XP_011508662.1:n.225-101T>C
XM_011510361.2:c.216-101T>C XP_011508663.1:n.216-101T>C
XM_017004317.1:c.2424-101T>C XP_016859806.1:n.2424-101T>C
XM_024452961.1:c.1785-101T>C XP_024308729.1:n.1785-101T>C
NM_015909.4:c.2424-101T>C MANE Select NP_056993.2:n.2424-101T>C
NR_052013.3:n.2454-101T>C