Canonical Allele Identifier: CA5153081

Gene: ANKS6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98736479G>A , CM000671.2:g.98736479G>A	GRCh38
NC_000009.11:g.101498761G>A , CM000671.1:g.101498761G>A	GRCh37
NC_000009.10:g.100538582G>A	NCBI36
NG_042237.1:g.65064C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173551.5:c.*40C>T MANE Select	NP_775822.3:n.*40C>T
ENST00000353234.5:c.*40C>T MANE Select	ENSP00000297837.6:n.*40C>T
NM_173551.3:c.*40C>T	NP_775822.3:n.*40C>T
NM_173551.4:c.*40C>T	NP_775822.3:n.*40C>T
ENST00000353234.4:c.*40C>T	ENSP00000297837.6:n.*40C>T
ENST00000375019.6:c.1705+48C>T	ENSP00000364159.2:n.1705+48C>T
ENST00000444472.5:c.1047+17C>T
ENST00000634393.1:n.1743+48C>T
XM_005251793.3:c.2611+48C>T	XP_005251850.1:n.2611+48C>T
XM_005251793.4:c.2611+48C>T	XP_005251850.1:n.2611+48C>T
XM_005251794.3:c.2608+48C>T	XP_005251851.1:n.2608+48C>T
XM_005251794.4:c.2608+48C>T	XP_005251851.1:n.2608+48C>T
XM_006716998.2:c.*23+17C>T	XP_006717061.1:n.*23+17C>T
XM_006716998.3:c.*23+17C>T	XP_006717061.1:n.*23+17C>T
XM_006716999.2:c.2437+48C>T	XP_006717062.1:n.2437+48C>T
XM_006716999.3:c.2437+48C>T	XP_006717062.1:n.2437+48C>T
XM_011518357.1:c.1621+48C>T	XP_011516659.1:n.1621+48C>T
XM_017014445.1:c.*23+17C>T	XP_016869934.1:n.*23+17C>T
XM_017014447.1:c.1360+48C>T	XP_016869936.1:n.1360+48C>T
XM_024447445.1:c.2329+48C>T	XP_024303213.1:n.2329+48C>T
XM_024447447.1:c.2026+48C>T	XP_024303215.1:n.2026+48C>T
XR_001746230.1:n.1761C>T
XR_242576.3:n.2694C>T
XR_428520.2:n.2698C>T
XR_428520.3:n.2697C>T
XR_929736.1:n.2698C>T
XR_929736.2:n.2697C>T
XR_929737.1:n.1748+48C>T