Canonical Allele Identifier: CA8080856

Gene: KATNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57752605C>T , CM000678.2:g.57752605C>T	GRCh38
NC_000016.9:g.57786517C>T , CM000678.1:g.57786517C>T	GRCh37
NC_000016.8:g.56344018C>T	NCBI36
NG_046947.1:g.21886C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005886.3:c.704+4C>T MANE Select	NP_005877.2:n.704+4C>T
ENST00000379661.8:c.704+4C>T MANE Select	ENSP00000368982.3:n.704+4C>T
NM_005886.2:c.704+4C>T	NP_005877.2:n.704+4C>T
ENST00000379661.7:c.704+4C>T	ENSP00000368982.3:n.704+4C>T
ENST00000566611.5:n.1701C>T
XM_005255772.3:c.704+4C>T	XP_005255829.1:n.704+4C>T
XM_005255772.5:c.704+4C>T	XP_005255829.1:n.704+4C>T
XM_006721121.2:c.704+4C>T	XP_006721184.1:n.704+4C>T
XM_006721121.4:c.704+4C>T	XP_006721184.1:n.704+4C>T
XM_006721122.2:c.704+4C>T	XP_006721185.1:n.704+4C>T
XM_006721123.2:c.704+4C>T	XP_006721186.1:n.704+4C>T
XM_006721123.4:c.704+4C>T	XP_006721186.1:n.704+4C>T
XM_011522810.1:c.704+4C>T	XP_011521112.1:n.704+4C>T
XM_011522810.2:c.704+4C>T	XP_011521112.1:n.704+4C>T
XM_017022860.2:c.704+4C>T	XP_016878349.1:n.704+4C>T
XM_017022861.1:c.704+4C>T	XP_016878350.1:n.704+4C>T
XM_017022862.1:c.704+4C>T	XP_016878351.1:n.704+4C>T
XM_017022863.1:c.704+4C>T	XP_016878352.1:n.704+4C>T
XM_017022864.1:c.704+4C>T	XP_016878353.1:n.704+4C>T