Canonical Allele Identifier: CA7230419
Gene: SPTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64782565A>G , CM000676.2:g.64782565A>G GRCh38
NC_000014.8:g.65249283A>G , CM000676.1:g.65249283A>G GRCh37
NC_000014.7:g.64319036A>G NCBI36
NG_016202.1:g.45584T>C
NG_016202.2:g.102328T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389720.4:c.4003-12T>C ENSP00000374370.4:n.4003-12T>C
ENST00000644917.1:c.4003-12T>C MANE Select ENSP00000495909.1:n.4003-12T>C
ENST00000389720.3:c.4003-12T>C ENSP00000374370.3:n.4003-12T>C
ENST00000389721.9:c.4003-12T>C ENSP00000374371.5:n.4003-12T>C
ENST00000389722.7:c.4003-12T>C ENSP00000374372.3:n.4003-12T>C
ENST00000556626.5:c.4003-12T>C ENSP00000451752.1:n.4003-12T>C
NM_000347.5:c.4003-12T>C NP_000338.3:n.4003-12T>C
NM_001024858.2:c.4003-12T>C NP_001020029.1:n.4003-12T>C
XM_005268023.3:c.4003-12T>C XP_005268080.1:n.4003-12T>C
XM_011537105.1:c.4003-12T>C XP_011535407.1:n.4003-12T>C
NM_001024858.3:c.4003-12T>C NP_001020029.1:n.4003-12T>C
NM_001355436.2:c.4003-12T>C MANE Select NP_001342365.1:n.4003-12T>C
NM_001355437.2:c.4003-12T>C NP_001342366.1:n.4003-12T>C
XM_011537105.3:c.4003-12T>C XP_011535407.1:n.4003-12T>C
XM_017021612.2:c.4003-12T>C XP_016877101.1:n.4003-12T>C
XM_024449699.1:c.4003-12T>C XP_024305467.1:n.4003-12T>C
NM_001024858.4:c.4003-12T>C NP_001020029.1:n.4003-12T>C