Canonical Allele Identifier: CA345890169

Gene: NBAS

Linked Data

• MyVariant Identifiers: chr2:g.15564560C>G (hg19) ; chr2:g.15424436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424436C>G , CM000664.2:g.15424436C>G	GRCh38
NC_000002.11:g.15564560C>G , CM000664.1:g.15564560C>G	GRCh37
NC_000002.10:g.15482011C>G	NCBI36
NG_032964.1:g.141913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.553G>C
ENST00000700062.1:c.553G>C
ENST00000700065.1:n.2469G>C
ENST00000700066.1:c.1973G>C	ENSP00000514780.1:p.Ser658Thr
ENST00000281513.10:c.2456G>C MANE Select	ENSP00000281513.5:p.Ser819Thr
ENST00000281513.9:c.2456G>C	ENSP00000281513.5:p.Ser819Thr
NM_015909.3:c.2456G>C	NP_056993.2:p.Ser819Thr
NR_052013.2:n.2500G>C
XM_011510357.1:c.2327G>C	XP_011508659.1:p.Ser776Thr
XM_011510358.1:c.2456G>C	XP_011508660.1:p.Ser819Thr
XM_011510359.1:c.1817G>C	XP_011508661.1:p.Ser606Thr
XM_011510360.1:c.257G>C	XP_011508662.1:p.Ser86Thr
XM_011510361.1:c.248G>C	XP_011508663.1:p.Ser83Thr
XM_011510357.2:c.2327G>C	XP_011508659.1:p.Ser776Thr
XM_011510358.2:c.2456G>C	XP_011508660.1:p.Ser819Thr
XM_011510360.2:c.257G>C	XP_011508662.1:p.Ser86Thr
XM_011510361.2:c.248G>C	XP_011508663.1:p.Ser83Thr
XM_017004317.1:c.2456G>C	XP_016859806.1:p.Ser819Thr
XM_024452961.1:c.1817G>C	XP_024308729.1:p.Ser606Thr
NM_015909.4:c.2456G>C MANE Select	NP_056993.2:p.Ser819Thr
NR_052013.3:n.2486G>C