Canonical Allele Identifier: CA11058451
Community Standard Title: NM_015909.4(NBAS):c.4348-100T>C
Gene: NBAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15328412A>G , CM000664.2:g.15328412A>G GRCh38
NC_000002.11:g.15468536A>G , CM000664.1:g.15468536A>G GRCh37
NC_000002.10:g.15385987A>G NCBI36
NG_032964.1:g.237937T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015909.4:c.4348-100T>C MANE Select NP_056993.2:n.4348-100T>C
ENST00000281513.10:c.4348-100T>C MANE Select ENSP00000281513.5:n.4348-100T>C
NM_015909.3:c.4348-100T>C NP_056993.2:n.4348-100T>C
NR_052013.2:n.4392-100T>C
NR_052013.3:n.4378-100T>C
ENST00000281513.9:c.4348-100T>C ENSP00000281513.5:n.4348-100T>C
ENST00000442506.5:c.1491-100T>C
ENST00000700061.1:c.2445-100T>C
ENST00000700062.1:c.2538-100T>C
ENST00000700064.1:c.204-100T>C
ENST00000700065.1:n.4361-100T>C
XM_011510357.1:c.4219-100T>C XP_011508659.1:n.4219-100T>C
XM_011510357.2:c.4219-100T>C XP_011508659.1:n.4219-100T>C
XM_011510358.1:c.4348-100T>C XP_011508660.1:n.4348-100T>C
XM_011510358.2:c.4348-100T>C XP_011508660.1:n.4348-100T>C
XM_011510359.1:c.3709-100T>C XP_011508661.1:n.3709-100T>C
XM_011510360.1:c.2149-100T>C XP_011508662.1:n.2149-100T>C
XM_011510360.2:c.2149-100T>C XP_011508662.1:n.2149-100T>C
XM_011510361.1:c.2140-100T>C XP_011508663.1:n.2140-100T>C
XM_011510361.2:c.2140-100T>C XP_011508663.1:n.2140-100T>C
XM_017004317.1:c.4348-100T>C XP_016859806.1:n.4348-100T>C
XM_024452961.1:c.3709-100T>C XP_024308729.1:n.3709-100T>C