Canonical Allele Identifier: CA1535210
Community Standard Title: NM_015909.4(NBAS):c.5727G>C (p.Leu1909=)
Gene: NBAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15238684C>G , CM000664.2:g.15238684C>G GRCh38
NC_000002.11:g.15378808C>G , CM000664.1:g.15378808C>G GRCh37
NC_000002.10:g.15296259C>G NCBI36
NG_032964.1:g.327665G>C

Transcript Alleles

HGVS Amino-acid Change
NM_015909.4:c.5727G>C MANE Select NP_056993.2:p.Leu1909=
ENST00000281513.10:c.5727G>C MANE Select ENSP00000281513.5:p.Leu1909=
NM_015909.3:c.5727G>C NP_056993.2:p.Leu1909=
NR_052013.2:n.5771G>C
NR_052013.3:n.5757G>C
ENST00000281513.9:c.5727G>C ENSP00000281513.5:p.Leu1909=
ENST00000417461.5:c.3G>C ENSP00000392421.1:p.Leu1=
ENST00000442506.5:c.2870G>C
ENST00000700061.1:c.3713G>C
ENST00000700062.1:c.3917G>C
ENST00000700063.1:c.455-3937G>C
ENST00000700064.1:c.1583G>C
XM_011510357.1:c.5598G>C XP_011508659.1:p.Leu1866=
XM_011510357.2:c.5598G>C XP_011508659.1:p.Leu1866=
XM_011510358.1:c.5727G>C XP_011508660.1:p.Leu1909=
XM_011510358.2:c.5727G>C XP_011508660.1:p.Leu1909=
XM_011510359.1:c.5088G>C XP_011508661.1:p.Leu1696=
XM_011510360.1:c.3528G>C XP_011508662.1:p.Leu1176=
XM_011510360.2:c.3528G>C XP_011508662.1:p.Leu1176=
XM_011510361.1:c.3519G>C XP_011508663.1:p.Leu1173=
XM_011510361.2:c.3519G>C XP_011508663.1:p.Leu1173=
XM_017004317.1:c.5727G>C XP_016859806.1:p.Leu1909=
XM_024452961.1:c.5088G>C XP_024308729.1:p.Leu1696=