Canonical Allele Identifier: CA2490804874

Gene: NBAS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15238292A>G , CM000664.2:g.15238292A>G	GRCh38
NC_000002.11:g.15378416A>G , CM000664.1:g.15378416A>G	GRCh37
NC_000002.10:g.15295867A>G	NCBI36
NG_032964.1:g.328057T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015909.4:c.5943+176T>C MANE Select	NP_056993.2:n.5943+176T>C
ENST00000281513.10:c.5943+176T>C MANE Select	ENSP00000281513.5:n.5943+176T>C
NM_015909.3:c.5943+176T>C	NP_056993.2:n.5943+176T>C
NR_052013.2:n.5987+176T>C
NR_052013.3:n.5973+176T>C
ENST00000281513.9:c.5943+176T>C	ENSP00000281513.5:n.5943+176T>C
ENST00000417461.5:c.219+176T>C	ENSP00000392421.1:n.219+176T>C
ENST00000442506.5:c.3086+176T>C
ENST00000700061.1:c.3929+176T>C
ENST00000700062.1:c.4133+176T>C
ENST00000700063.1:c.455-3545T>C
ENST00000700064.1:c.1799+176T>C
XM_011510357.1:c.5814+176T>C	XP_011508659.1:n.5814+176T>C
XM_011510357.2:c.5814+176T>C	XP_011508659.1:n.5814+176T>C
XM_011510358.1:c.5943+176T>C	XP_011508660.1:n.5943+176T>C
XM_011510358.2:c.5943+176T>C	XP_011508660.1:n.5943+176T>C
XM_011510359.1:c.5304+176T>C	XP_011508661.1:n.5304+176T>C
XM_011510360.1:c.3744+176T>C	XP_011508662.1:n.3744+176T>C
XM_011510360.2:c.3744+176T>C	XP_011508662.1:n.3744+176T>C
XM_011510361.1:c.3735+176T>C	XP_011508663.1:n.3735+176T>C
XM_011510361.2:c.3735+176T>C	XP_011508663.1:n.3735+176T>C
XM_017004317.1:c.5943+176T>C	XP_016859806.1:n.5943+176T>C
XM_024452961.1:c.5304+176T>C	XP_024308729.1:n.5304+176T>C