Canonical Allele Identifier: CA345890049
Gene: NBAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15424413G>T , CM000664.2:g.15424413G>T GRCh38
NC_000002.11:g.15564537G>T , CM000664.1:g.15564537G>T GRCh37
NC_000002.10:g.15481988G>T NCBI36
NG_032964.1:g.141936C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.576C>A
ENST00000700062.1:c.576C>A
ENST00000700065.1:n.2492C>A
ENST00000700066.1:c.1996C>A ENSP00000514780.1:p.Pro666Thr
ENST00000281513.10:c.2479C>A MANE Select ENSP00000281513.5:p.Pro827Thr
ENST00000281513.9:c.2479C>A ENSP00000281513.5:p.Pro827Thr
NM_015909.3:c.2479C>A NP_056993.2:p.Pro827Thr
NR_052013.2:n.2523C>A
XM_011510357.1:c.2350C>A XP_011508659.1:p.Pro784Thr
XM_011510358.1:c.2479C>A XP_011508660.1:p.Pro827Thr
XM_011510359.1:c.1840C>A XP_011508661.1:p.Pro614Thr
XM_011510360.1:c.280C>A XP_011508662.1:p.Pro94Thr
XM_011510361.1:c.271C>A XP_011508663.1:p.Pro91Thr
XM_011510357.2:c.2350C>A XP_011508659.1:p.Pro784Thr
XM_011510358.2:c.2479C>A XP_011508660.1:p.Pro827Thr
XM_011510360.2:c.280C>A XP_011508662.1:p.Pro94Thr
XM_011510361.2:c.271C>A XP_011508663.1:p.Pro91Thr
XM_017004317.1:c.2479C>A XP_016859806.1:p.Pro827Thr
XM_024452961.1:c.1840C>A XP_024308729.1:p.Pro614Thr
NM_015909.4:c.2479C>A MANE Select NP_056993.2:p.Pro827Thr
NR_052013.3:n.2509C>A