Canonical Allele Identifier: CA345890028

Gene: NBAS

Linked Data

• gnomAD v4: 2-15424409-T-G
• MyVariant Identifiers: chr2:g.15564533T>G (hg19) ; chr2:g.15424409T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424409T>G , CM000664.2:g.15424409T>G	GRCh38
NC_000002.11:g.15564533T>G , CM000664.1:g.15564533T>G	GRCh37
NC_000002.10:g.15481984T>G	NCBI36
NG_032964.1:g.141940A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.580A>C
ENST00000700062.1:c.580A>C
ENST00000700065.1:n.2496A>C
ENST00000700066.1:c.2000A>C	ENSP00000514780.1:p.Glu667Ala
ENST00000281513.10:c.2483A>C MANE Select	ENSP00000281513.5:p.Glu828Ala
ENST00000281513.9:c.2483A>C	ENSP00000281513.5:p.Glu828Ala
NM_015909.3:c.2483A>C	NP_056993.2:p.Glu828Ala
NR_052013.2:n.2527A>C
XM_011510357.1:c.2354A>C	XP_011508659.1:p.Glu785Ala
XM_011510358.1:c.2483A>C	XP_011508660.1:p.Glu828Ala
XM_011510359.1:c.1844A>C	XP_011508661.1:p.Glu615Ala
XM_011510360.1:c.284A>C	XP_011508662.1:p.Glu95Ala
XM_011510361.1:c.275A>C	XP_011508663.1:p.Glu92Ala
XM_011510357.2:c.2354A>C	XP_011508659.1:p.Glu785Ala
XM_011510358.2:c.2483A>C	XP_011508660.1:p.Glu828Ala
XM_011510360.2:c.284A>C	XP_011508662.1:p.Glu95Ala
XM_011510361.2:c.275A>C	XP_011508663.1:p.Glu92Ala
XM_017004317.1:c.2483A>C	XP_016859806.1:p.Glu828Ala
XM_024452961.1:c.1844A>C	XP_024308729.1:p.Glu615Ala
NM_015909.4:c.2483A>C MANE Select	NP_056993.2:p.Glu828Ala
NR_052013.3:n.2513A>C