Canonical Allele Identifier: CA374218892

Gene: ANKS6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98790402C>G , CM000671.2:g.98790402C>G	GRCh38
NC_000009.11:g.101552684C>G , CM000671.1:g.101552684C>G	GRCh37
NC_000009.10:g.100592505C>G	NCBI36
NG_042237.1:g.11141G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353234.5:c.564G>C MANE Select	ENSP00000297837.6:p.Glu188Asp
ENST00000353234.4:c.564G>C	ENSP00000297837.6:p.Glu188Asp
ENST00000375019.6:c.-41-5526G>C	ENSP00000364159.2:n.-41-5526G>C
ENST00000466120.1:n.95G>C
ENST00000471846.1:n.612G>C
ENST00000634393.1:n.7+5588G>C
NM_173551.3:c.564G>C	NP_775822.3:p.Glu188Asp
NM_173551.4:c.564G>C	NP_775822.3:p.Glu188Asp
XM_005251793.3:c.564G>C	XP_005251850.1:p.Glu188Asp
XM_005251794.3:c.564G>C	XP_005251851.1:p.Glu188Asp
XM_006716998.2:c.564G>C	XP_006717061.1:p.Glu188Asp
XM_006716999.2:c.390G>C	XP_006717062.1:p.Glu130Asp
XM_011518356.1:c.564G>C	XP_011516658.1:p.Glu188Asp
XR_242576.3:n.602G>C
XR_428520.2:n.603G>C
XR_929736.1:n.603G>C
XM_005251793.4:c.564G>C	XP_005251850.1:p.Glu188Asp
XM_005251794.4:c.564G>C	XP_005251851.1:p.Glu188Asp
XM_006716998.3:c.564G>C	XP_006717061.1:p.Glu188Asp
XM_006716999.3:c.390G>C	XP_006717062.1:p.Glu130Asp
XM_017014445.1:c.564G>C	XP_016869934.1:p.Glu188Asp
XM_024447445.1:c.282G>C	XP_024303213.1:p.Glu94Asp
XM_024447447.1:c.-22G>C	XP_024303215.1:n.-22G>C
XR_428520.3:n.602G>C
XR_929736.2:n.602G>C
NM_173551.5:c.564G>C MANE Select	NP_775822.3:p.Glu188Asp