Canonical Allele Identifier: CA8081013
Community Standard Title: NM_005886.3(KATNB1):c.1047-3C>T
Gene: KATNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57753386C>T , CM000678.2:g.57753386C>T GRCh38
NC_000016.9:g.57787298C>T , CM000678.1:g.57787298C>T GRCh37
NC_000016.8:g.56344799C>T NCBI36
NG_046947.1:g.22667C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005886.3:c.1047-3C>T MANE Select NP_005877.2:n.1047-3C>T
ENST00000379661.8:c.1047-3C>T MANE Select ENSP00000368982.3:n.1047-3C>T
NM_005886.2:c.1047-3C>T NP_005877.2:n.1047-3C>T
ENST00000379661.7:c.1047-3C>T ENSP00000368982.3:n.1047-3C>T
ENST00000566611.5:n.2364-3C>T
XM_005255772.3:c.1047-3C>T XP_005255829.1:n.1047-3C>T
XM_005255772.5:c.1047-3C>T XP_005255829.1:n.1047-3C>T
XM_006721121.2:c.1047-3C>T XP_006721184.1:n.1047-3C>T
XM_006721121.4:c.1047-3C>T XP_006721184.1:n.1047-3C>T
XM_006721122.2:c.1047-3C>T XP_006721185.1:n.1047-3C>T
XM_006721123.2:c.1047-3C>T XP_006721186.1:n.1047-3C>T
XM_006721123.4:c.1047-3C>T XP_006721186.1:n.1047-3C>T
XM_011522810.1:c.1047-3C>T XP_011521112.1:n.1047-3C>T
XM_011522810.2:c.1047-3C>T XP_011521112.1:n.1047-3C>T
XM_017022860.2:c.1047-3C>T XP_016878349.1:n.1047-3C>T
XM_017022861.1:c.1047-3C>T XP_016878350.1:n.1047-3C>T
XM_017022862.1:c.1047-3C>T XP_016878351.1:n.1047-3C>T
XM_017022863.1:c.1047-3C>T XP_016878352.1:n.1047-3C>T
XM_017022864.1:c.1047-3C>T XP_016878353.1:n.1047-3C>T