Canonical Allele Identifier: CA5153099

Gene: ANKS6

Linked Data

• ClinVar Variation Id: 474451
• ClinVar RCV Id: RCV000558181 ; RCV002263795 ; RCV003945307
• dbSNP Id: rs200644058
• ExAC: 9:101498853 A / G
• gnomAD v2: 9-101498853-A-G
• gnomAD v3: 9-98736571-A-G
• gnomAD v4: 9-98736571-A-G
• MyVariant Identifiers: chr9:g.101498853A>G (hg19) ; chr9:g.98736571A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98736571A>G , CM000671.2:g.98736571A>G	GRCh38
NC_000009.11:g.101498853A>G , CM000671.1:g.101498853A>G	GRCh37
NC_000009.10:g.100538674A>G	NCBI36
NG_042237.1:g.64972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353234.5:c.2564T>C MANE Select	ENSP00000297837.6:p.Phe855Ser
ENST00000353234.4:c.2564T>C	ENSP00000297837.6:p.Phe855Ser
ENST00000375019.6:c.1661T>C	ENSP00000364159.2:p.Phe554Ser
ENST00000444472.5:c.972T>C
ENST00000634393.1:n.1699T>C
NM_173551.3:c.2564T>C	NP_775822.3:p.Phe855Ser
NM_173551.4:c.2564T>C	NP_775822.3:p.Phe855Ser
XM_005251793.3:c.2567T>C	XP_005251850.1:p.Phe856Ser
XM_005251794.3:c.2564T>C	XP_005251851.1:p.Phe855Ser
XM_006716998.2:c.2567T>C	XP_006717061.1:p.Phe856Ser
XM_006716999.2:c.2393T>C	XP_006717062.1:p.Phe798Ser
XM_011518357.1:c.1577T>C	XP_011516659.1:p.Phe526Ser
XR_242576.3:n.2602T>C
XR_428520.2:n.2606T>C
XR_929736.1:n.2606T>C
XR_929737.1:n.1704T>C
XM_005251793.4:c.2567T>C	XP_005251850.1:p.Phe856Ser
XM_005251794.4:c.2564T>C	XP_005251851.1:p.Phe855Ser
XM_006716998.3:c.2567T>C	XP_006717061.1:p.Phe856Ser
XM_006716999.3:c.2393T>C	XP_006717062.1:p.Phe798Ser
XM_017014445.1:c.2564T>C	XP_016869934.1:p.Phe855Ser
XM_017014447.1:c.1316T>C	XP_016869936.1:p.Phe439Ser
XM_024447445.1:c.2285T>C	XP_024303213.1:p.Phe762Ser
XM_024447447.1:c.1982T>C	XP_024303215.1:p.Phe661Ser
XR_001746230.1:n.1669T>C
XR_428520.3:n.2605T>C
XR_929736.2:n.2605T>C
NM_173551.5:c.2564T>C MANE Select	NP_775822.3:p.Phe855Ser