Canonical Allele Identifier: CA5153635

Gene: ANKS6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98783966C>A , CM000671.2:g.98783966C>A	GRCh38
NC_000009.11:g.101546248C>A , CM000671.1:g.101546248C>A	GRCh37
NC_000009.10:g.100586069C>A	NCBI36
NG_042237.1:g.17577G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353234.5:c.1099G>T MANE Select	ENSP00000297837.6:p.Ala367Ser
ENST00000353234.4:c.1099G>T	ENSP00000297837.6:p.Ala367Ser
ENST00000375019.6:c.196G>T	ENSP00000364159.2:p.Ala66Ser
ENST00000466120.1:n.630G>T
ENST00000486778.1:n.281G>T
ENST00000634393.1:n.199G>T
NM_173551.3:c.1099G>T	NP_775822.3:p.Ala367Ser
NM_173551.4:c.1099G>T	NP_775822.3:p.Ala367Ser
XM_005251793.3:c.1099G>T	XP_005251850.1:p.Ala367Ser
XM_005251794.3:c.1099G>T	XP_005251851.1:p.Ala367Ser
XM_006716998.2:c.1099G>T	XP_006717061.1:p.Ala367Ser
XM_006716999.2:c.925G>T	XP_006717062.1:p.Ala309Ser
XM_011518356.1:c.1099G>T	XP_011516658.1:p.Ala367Ser
XM_011518357.1:c.109G>T	XP_011516659.1:p.Ala37Ser
XR_242576.3:n.1137G>T
XR_428520.2:n.1138G>T
XR_929736.1:n.1138G>T
XR_929737.1:n.204G>T
XM_005251793.4:c.1099G>T	XP_005251850.1:p.Ala367Ser
XM_005251794.4:c.1099G>T	XP_005251851.1:p.Ala367Ser
XM_006716998.3:c.1099G>T	XP_006717061.1:p.Ala367Ser
XM_006716999.3:c.925G>T	XP_006717062.1:p.Ala309Ser
XM_017014445.1:c.1099G>T	XP_016869934.1:p.Ala367Ser
XM_024447445.1:c.817G>T	XP_024303213.1:p.Ala273Ser
XM_024447447.1:c.514G>T	XP_024303215.1:p.Ala172Ser
XR_001746230.1:n.204G>T
XR_428520.3:n.1137G>T
XR_929736.2:n.1137G>T
NM_173551.5:c.1099G>T MANE Select	NP_775822.3:p.Ala367Ser