Canonical Allele Identifier: CA281605234

Gene: KATNB1

Linked Data

• dbSNP Id: rs184596776
• gnomAD v2: 16-57785486-G-C
• gnomAD v3: 16-57751574-G-C
• gnomAD v4: 16-57751574-G-C
• MyVariant Identifiers: chr16:g.57785486G>C (hg19) ; chr16:g.57751574G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57751574G>C , CM000678.2:g.57751574G>C	GRCh38
NC_000016.9:g.57785486G>C , CM000678.1:g.57785486G>C	GRCh37
NC_000016.8:g.56342987G>C	NCBI36
NG_046947.1:g.20855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379661.8:c.433-67G>C MANE Select	ENSP00000368982.3:n.433-67G>C
ENST00000379661.7:c.433-67G>C	ENSP00000368982.3:n.433-67G>C
ENST00000562592.5:c.433-67G>C	ENSP00000455350.1:n.433-67G>C
ENST00000563127.1:n.485-67G>C
ENST00000566611.5:n.952-67G>C
ENST00000566726.5:c.445-67G>C	ENSP00000455270.1:n.445-67G>C
ENST00000569627.1:c.332-67G>C	ENSP00000457046.1:n.332-67G>C
NM_005886.2:c.433-67G>C	NP_005877.2:n.433-67G>C
XM_005255772.3:c.433-67G>C	XP_005255829.1:n.433-67G>C
XM_006721121.2:c.433-67G>C	XP_006721184.1:n.433-67G>C
XM_006721122.2:c.433-67G>C	XP_006721185.1:n.433-67G>C
XM_006721123.2:c.433-67G>C	XP_006721186.1:n.433-67G>C
XM_011522810.1:c.433-67G>C	XP_011521112.1:n.433-67G>C
XM_005255772.5:c.433-67G>C	XP_005255829.1:n.433-67G>C
XM_006721121.4:c.433-67G>C	XP_006721184.1:n.433-67G>C
XM_006721123.4:c.433-67G>C	XP_006721186.1:n.433-67G>C
XM_011522810.2:c.433-67G>C	XP_011521112.1:n.433-67G>C
XM_017022860.2:c.433-67G>C	XP_016878349.1:n.433-67G>C
XM_017022861.1:c.433-67G>C	XP_016878350.1:n.433-67G>C
XM_017022862.1:c.433-67G>C	XP_016878351.1:n.433-67G>C
XM_017022863.1:c.433-67G>C	XP_016878352.1:n.433-67G>C
XM_017022864.1:c.433-67G>C	XP_016878353.1:n.433-67G>C
NM_005886.3:c.433-67G>C MANE Select	NP_005877.2:n.433-67G>C