Canonical Allele Identifier: CA424868938

Gene: NBAS

Linked Data

• gnomAD v4: 2-15402203-A-G
• MyVariant Identifiers: chr2:g.15542327A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15402203A>G , CM000664.2:g.15402203A>G	GRCh38
NC_000002.11:g.15542327A>G , CM000664.1:g.15542327A>G	GRCh37
NC_000002.10:g.15459778A>G	NCBI36
NG_032964.1:g.164146T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.1133T>C
ENST00000700062.1:c.1133T>C
ENST00000700065.1:n.3049T>C
ENST00000281513.10:c.3036T>C MANE Select	ENSP00000281513.5:p.Tyr1012=
ENST00000281513.9:c.3036T>C	ENSP00000281513.5:p.Tyr1012=
ENST00000429842.1:c.328T>C
ENST00000441755.5:c.177T>C	ENSP00000396501.1:p.Tyr59=
ENST00000442506.5:c.179T>C
NM_015909.3:c.3036T>C	NP_056993.2:p.Tyr1012=
NR_052013.2:n.3080T>C
XM_011510357.1:c.2907T>C	XP_011508659.1:p.Tyr969=
XM_011510358.1:c.3036T>C	XP_011508660.1:p.Tyr1012=
XM_011510359.1:c.2397T>C	XP_011508661.1:p.Tyr799=
XM_011510360.1:c.837T>C	XP_011508662.1:p.Tyr279=
XM_011510361.1:c.828T>C	XP_011508663.1:p.Tyr276=
XM_011510357.2:c.2907T>C	XP_011508659.1:p.Tyr969=
XM_011510358.2:c.3036T>C	XP_011508660.1:p.Tyr1012=
XM_011510360.2:c.837T>C	XP_011508662.1:p.Tyr279=
XM_011510361.2:c.828T>C	XP_011508663.1:p.Tyr276=
XM_017004317.1:c.3036T>C	XP_016859806.1:p.Tyr1012=
XM_024452961.1:c.2397T>C	XP_024308729.1:p.Tyr799=
NM_015909.4:c.3036T>C MANE Select	NP_056993.2:p.Tyr1012=
NR_052013.3:n.3066T>C