Canonical Allele Identifier: CA5153517

Gene: ANKS6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98778412G>A , CM000671.2:g.98778412G>A	GRCh38
NC_000009.11:g.101540694G>A , CM000671.1:g.101540694G>A	GRCh37
NC_000009.10:g.100580515G>A	NCBI36
NG_042237.1:g.23131C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173551.5:c.1381C>T MANE Select	NP_775822.3:p.Arg461Ter
ENST00000353234.5:c.1381C>T MANE Select	ENSP00000297837.6:p.Arg461Ter
NM_173551.3:c.1381C>T	NP_775822.3:p.Arg461Ter
NM_173551.4:c.1381C>T	NP_775822.3:p.Arg461Ter
ENST00000353234.4:c.1381C>T	ENSP00000297837.6:p.Arg461Ter
ENST00000375019.6:c.478C>T	ENSP00000364159.2:p.Arg160Ter
ENST00000634393.1:n.481C>T
XM_005251793.3:c.1381C>T	XP_005251850.1:p.Arg461Ter
XM_005251793.4:c.1381C>T	XP_005251850.1:p.Arg461Ter
XM_005251794.3:c.1381C>T	XP_005251851.1:p.Arg461Ter
XM_005251794.4:c.1381C>T	XP_005251851.1:p.Arg461Ter
XM_006716998.2:c.1381C>T	XP_006717061.1:p.Arg461Ter
XM_006716998.3:c.1381C>T	XP_006717061.1:p.Arg461Ter
XM_006716999.2:c.1207C>T	XP_006717062.1:p.Arg403Ter
XM_006716999.3:c.1207C>T	XP_006717062.1:p.Arg403Ter
XM_011518356.1:c.1381C>T	XP_011516658.1:p.Arg461Ter
XM_011518357.1:c.391C>T	XP_011516659.1:p.Arg131Ter
XM_017014445.1:c.1381C>T	XP_016869934.1:p.Arg461Ter
XM_017014447.1:c.130C>T	XP_016869936.1:p.Arg44Ter
XM_024447445.1:c.1099C>T	XP_024303213.1:p.Arg367Ter
XM_024447447.1:c.796C>T	XP_024303215.1:p.Arg266Ter
XR_001746230.1:n.486C>T
XR_242576.3:n.1419C>T
XR_428520.2:n.1420C>T
XR_428520.3:n.1419C>T
XR_929736.1:n.1420C>T
XR_929736.2:n.1419C>T
XR_929737.1:n.486C>T