Canonical Allele Identifier: CA5153820

Gene: ANKS6

Linked Data

• ClinVar Variation Id: 474453
• ClinVar RCV Id: RCV000551531 ; RCV002526699 ; RCV003480687 ; RCV003925693
• dbSNP Id: rs181546859
• ExAC: 9:101552716 C / T
• gnomAD v2: 9-101552716-C-T
• gnomAD v3: 9-98790434-C-T
• gnomAD v4: 9-98790434-C-T
• MyVariant Identifiers: chr9:g.101552716C>T (hg19) ; chr9:g.98790434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98790434C>T , CM000671.2:g.98790434C>T	GRCh38
NC_000009.11:g.101552716C>T , CM000671.1:g.101552716C>T	GRCh37
NC_000009.10:g.100592537C>T	NCBI36
NG_042237.1:g.11109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353234.5:c.532G>A MANE Select	ENSP00000297837.6:p.Glu178Lys
ENST00000353234.4:c.532G>A	ENSP00000297837.6:p.Glu178Lys
ENST00000375019.6:c.-41-5558G>A	ENSP00000364159.2:n.-41-5558G>A
ENST00000466120.1:n.63G>A
ENST00000471846.1:n.580G>A
ENST00000634393.1:n.7+5556G>A
NM_173551.3:c.532G>A	NP_775822.3:p.Glu178Lys
NM_173551.4:c.532G>A	NP_775822.3:p.Glu178Lys
XM_005251793.3:c.532G>A	XP_005251850.1:p.Glu178Lys
XM_005251794.3:c.532G>A	XP_005251851.1:p.Glu178Lys
XM_006716998.2:c.532G>A	XP_006717061.1:p.Glu178Lys
XM_006716999.2:c.358G>A	XP_006717062.1:p.Glu120Lys
XM_011518356.1:c.532G>A	XP_011516658.1:p.Glu178Lys
XR_242576.3:n.570G>A
XR_428520.2:n.571G>A
XR_929736.1:n.571G>A
XM_005251793.4:c.532G>A	XP_005251850.1:p.Glu178Lys
XM_005251794.4:c.532G>A	XP_005251851.1:p.Glu178Lys
XM_006716998.3:c.532G>A	XP_006717061.1:p.Glu178Lys
XM_006716999.3:c.358G>A	XP_006717062.1:p.Glu120Lys
XM_017014445.1:c.532G>A	XP_016869934.1:p.Glu178Lys
XM_024447445.1:c.250G>A	XP_024303213.1:p.Glu84Lys
XM_024447447.1:c.-54G>A	XP_024303215.1:n.-54G>A
XR_428520.3:n.570G>A
XR_929736.2:n.570G>A
NM_173551.5:c.532G>A MANE Select	NP_775822.3:p.Glu178Lys