Canonical Allele Identifier: CA424868995

Gene: NBAS

Linked Data

• gnomAD v4: 2-15402301-G-A
• MyVariant Identifiers: chr2:g.15542425G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402301G>A , CM000664.2:g.15402301G>A	GRCh38
NC_000002.11:g.15542425G>A , CM000664.1:g.15542425G>A	GRCh37
NC_000002.10:g.15459876G>A	NCBI36
NG_032964.1:g.164048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1035C>T
ENST00000700062.1:c.1035C>T
ENST00000700065.1:n.2951C>T
ENST00000281513.10:c.2938C>T MANE Select	ENSP00000281513.5:p.Leu980=
ENST00000281513.9:c.2938C>T	ENSP00000281513.5:p.Leu980=
ENST00000429842.1:c.230C>T
ENST00000441755.5:c.79C>T	ENSP00000396501.1:p.Leu27=
ENST00000442506.5:c.81C>T
NM_015909.3:c.2938C>T	NP_056993.2:p.Leu980=
NR_052013.2:n.2982C>T
XM_011510357.1:c.2809C>T	XP_011508659.1:p.Leu937=
XM_011510358.1:c.2938C>T	XP_011508660.1:p.Leu980=
XM_011510359.1:c.2299C>T	XP_011508661.1:p.Leu767=
XM_011510360.1:c.739C>T	XP_011508662.1:p.Leu247=
XM_011510361.1:c.730C>T	XP_011508663.1:p.Leu244=
XM_011510357.2:c.2809C>T	XP_011508659.1:p.Leu937=
XM_011510358.2:c.2938C>T	XP_011508660.1:p.Leu980=
XM_011510360.2:c.739C>T	XP_011508662.1:p.Leu247=
XM_011510361.2:c.730C>T	XP_011508663.1:p.Leu244=
XM_017004317.1:c.2938C>T	XP_016859806.1:p.Leu980=
XM_024452961.1:c.2299C>T	XP_024308729.1:p.Leu767=
NM_015909.4:c.2938C>T MANE Select	NP_056993.2:p.Leu980=
NR_052013.3:n.2968C>T