Canonical Allele Identifier: CA345890080

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564543C>G (hg19) ; chr2:g.15424419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424419C>G , CM000664.2:g.15424419C>G	GRCh38
NC_000002.11:g.15564543C>G , CM000664.1:g.15564543C>G	GRCh37
NC_000002.10:g.15481994C>G	NCBI36
NG_032964.1:g.141930G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.570G>C
ENST00000700062.1:c.570G>C
ENST00000700065.1:n.2486G>C
ENST00000700066.1:c.1990G>C	ENSP00000514780.1:p.Ala664Pro
ENST00000281513.10:c.2473G>C MANE Select	ENSP00000281513.5:p.Ala825Pro
ENST00000281513.9:c.2473G>C	ENSP00000281513.5:p.Ala825Pro
NM_015909.3:c.2473G>C	NP_056993.2:p.Ala825Pro
NR_052013.2:n.2517G>C
XM_011510357.1:c.2344G>C	XP_011508659.1:p.Ala782Pro
XM_011510358.1:c.2473G>C	XP_011508660.1:p.Ala825Pro
XM_011510359.1:c.1834G>C	XP_011508661.1:p.Ala612Pro
XM_011510360.1:c.274G>C	XP_011508662.1:p.Ala92Pro
XM_011510361.1:c.265G>C	XP_011508663.1:p.Ala89Pro
XM_011510357.2:c.2344G>C	XP_011508659.1:p.Ala782Pro
XM_011510358.2:c.2473G>C	XP_011508660.1:p.Ala825Pro
XM_011510360.2:c.274G>C	XP_011508662.1:p.Ala92Pro
XM_011510361.2:c.265G>C	XP_011508663.1:p.Ala89Pro
XM_017004317.1:c.2473G>C	XP_016859806.1:p.Ala825Pro
XM_024452961.1:c.1834G>C	XP_024308729.1:p.Ala612Pro
NM_015909.4:c.2473G>C MANE Select	NP_056993.2:p.Ala825Pro
NR_052013.3:n.2503G>C