Canonical Allele Identifier: CA5153553

Gene: ANKS6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98780256A>G , CM000671.2:g.98780256A>G	GRCh38
NC_000009.11:g.101542538A>G , CM000671.1:g.101542538A>G	GRCh37
NC_000009.10:g.100582359A>G	NCBI36
NG_042237.1:g.21287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353234.5:c.1301T>C MANE Select	ENSP00000297837.6:p.Leu434Pro
ENST00000353234.4:c.1301T>C	ENSP00000297837.6:p.Leu434Pro
ENST00000375019.6:c.398T>C	ENSP00000364159.2:p.Leu133Pro
ENST00000634393.1:n.401T>C
NM_173551.3:c.1301T>C	NP_775822.3:p.Leu434Pro
NM_173551.4:c.1301T>C	NP_775822.3:p.Leu434Pro
XM_005251793.3:c.1301T>C	XP_005251850.1:p.Leu434Pro
XM_005251794.3:c.1301T>C	XP_005251851.1:p.Leu434Pro
XM_006716998.2:c.1301T>C	XP_006717061.1:p.Leu434Pro
XM_006716999.2:c.1127T>C	XP_006717062.1:p.Leu376Pro
XM_011518356.1:c.1301T>C	XP_011516658.1:p.Leu434Pro
XM_011518357.1:c.311T>C	XP_011516659.1:p.Leu104Pro
XR_242576.3:n.1339T>C
XR_428520.2:n.1340T>C
XR_929736.1:n.1340T>C
XR_929737.1:n.406T>C
XM_005251793.4:c.1301T>C	XP_005251850.1:p.Leu434Pro
XM_005251794.4:c.1301T>C	XP_005251851.1:p.Leu434Pro
XM_006716998.3:c.1301T>C	XP_006717061.1:p.Leu434Pro
XM_006716999.3:c.1127T>C	XP_006717062.1:p.Leu376Pro
XM_017014445.1:c.1301T>C	XP_016869934.1:p.Leu434Pro
XM_017014447.1:c.50T>C	XP_016869936.1:p.Leu17Pro
XM_024447445.1:c.1019T>C	XP_024303213.1:p.Leu340Pro
XM_024447447.1:c.716T>C	XP_024303215.1:p.Leu239Pro
XR_001746230.1:n.406T>C
XR_428520.3:n.1339T>C
XR_929736.2:n.1339T>C
NM_173551.5:c.1301T>C MANE Select	NP_775822.3:p.Leu434Pro