Canonical Allele Identifier: CA345882399

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15542407G>C (hg19) ; chr2:g.15402283G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402283G>C , CM000664.2:g.15402283G>C	GRCh38
NC_000002.11:g.15542407G>C , CM000664.1:g.15542407G>C	GRCh37
NC_000002.10:g.15459858G>C	NCBI36
NG_032964.1:g.164066C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1053C>G
ENST00000700062.1:c.1053C>G
ENST00000700065.1:n.2969C>G
ENST00000281513.10:c.2956C>G MANE Select	ENSP00000281513.5:p.Pro986Ala
ENST00000281513.9:c.2956C>G	ENSP00000281513.5:p.Pro986Ala
ENST00000429842.1:c.248C>G
ENST00000441755.5:c.97C>G	ENSP00000396501.1:p.Pro33Ala
ENST00000442506.5:c.99C>G
NM_015909.3:c.2956C>G	NP_056993.2:p.Pro986Ala
NR_052013.2:n.3000C>G
XM_011510357.1:c.2827C>G	XP_011508659.1:p.Pro943Ala
XM_011510358.1:c.2956C>G	XP_011508660.1:p.Pro986Ala
XM_011510359.1:c.2317C>G	XP_011508661.1:p.Pro773Ala
XM_011510360.1:c.757C>G	XP_011508662.1:p.Pro253Ala
XM_011510361.1:c.748C>G	XP_011508663.1:p.Pro250Ala
XM_011510357.2:c.2827C>G	XP_011508659.1:p.Pro943Ala
XM_011510358.2:c.2956C>G	XP_011508660.1:p.Pro986Ala
XM_011510360.2:c.757C>G	XP_011508662.1:p.Pro253Ala
XM_011510361.2:c.748C>G	XP_011508663.1:p.Pro250Ala
XM_017004317.1:c.2956C>G	XP_016859806.1:p.Pro986Ala
XM_024452961.1:c.2317C>G	XP_024308729.1:p.Pro773Ala
NM_015909.4:c.2956C>G MANE Select	NP_056993.2:p.Pro986Ala
NR_052013.3:n.2986C>G