Canonical Allele Identifier: CA5153674

Gene: ANKS6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98784128C>T , CM000671.2:g.98784128C>T	GRCh38
NC_000009.11:g.101546410C>T , CM000671.1:g.101546410C>T	GRCh37
NC_000009.10:g.100586231C>T	NCBI36
NG_042237.1:g.17415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353234.5:c.937G>A MANE Select	ENSP00000297837.6:p.Asp313Asn
ENST00000353234.4:c.937G>A	ENSP00000297837.6:p.Asp313Asn
ENST00000375019.6:c.34G>A	ENSP00000364159.2:p.Asp12Asn
ENST00000466120.1:n.468G>A
ENST00000486778.1:n.119G>A
ENST00000634393.1:n.37G>A
NM_173551.3:c.937G>A	NP_775822.3:p.Asp313Asn
NM_173551.4:c.937G>A	NP_775822.3:p.Asp313Asn
XM_005251793.3:c.937G>A	XP_005251850.1:p.Asp313Asn
XM_005251794.3:c.937G>A	XP_005251851.1:p.Asp313Asn
XM_006716998.2:c.937G>A	XP_006717061.1:p.Asp313Asn
XM_006716999.2:c.763G>A	XP_006717062.1:p.Asp255Asn
XM_011518356.1:c.937G>A	XP_011516658.1:p.Asp313Asn
XM_011518357.1:c.-54G>A	XP_011516659.1:n.-54G>A
XR_242576.3:n.975G>A
XR_428520.2:n.976G>A
XR_929736.1:n.976G>A
XR_929737.1:n.42G>A
XM_005251793.4:c.937G>A	XP_005251850.1:p.Asp313Asn
XM_005251794.4:c.937G>A	XP_005251851.1:p.Asp313Asn
XM_006716998.3:c.937G>A	XP_006717061.1:p.Asp313Asn
XM_006716999.3:c.763G>A	XP_006717062.1:p.Asp255Asn
XM_017014445.1:c.937G>A	XP_016869934.1:p.Asp313Asn
XM_024447445.1:c.655G>A	XP_024303213.1:p.Asp219Asn
XM_024447447.1:c.352G>A	XP_024303215.1:p.Asp118Asn
XR_001746230.1:n.42G>A
XR_428520.3:n.975G>A
XR_929736.2:n.975G>A
NM_173551.5:c.937G>A MANE Select	NP_775822.3:p.Asp313Asn