Canonical Allele Identifier: CA196819798

Gene: ANKS6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98745307G>A , CM000671.2:g.98745307G>A	GRCh38
NC_000009.11:g.101507589G>A , CM000671.1:g.101507589G>A	GRCh37
NC_000009.10:g.100547410G>A	NCBI36
NG_042237.1:g.56236C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173551.5:c.2511+252C>T MANE Select	NP_775822.3:n.2511+252C>T
ENST00000353234.5:c.2511+252C>T MANE Select	ENSP00000297837.6:n.2511+252C>T
NM_173551.3:c.2511+252C>T	NP_775822.3:n.2511+252C>T
NM_173551.4:c.2511+252C>T	NP_775822.3:n.2511+252C>T
ENST00000353234.4:c.2511+252C>T	ENSP00000297837.6:n.2511+252C>T
ENST00000375019.6:c.1608+252C>T	ENSP00000364159.2:n.1608+252C>T
ENST00000444472.5:c.919+252C>T
ENST00000634393.1:n.1646+252C>T
XM_005251793.3:c.2514+252C>T	XP_005251850.1:n.2514+252C>T
XM_005251793.4:c.2514+252C>T	XP_005251850.1:n.2514+252C>T
XM_005251794.3:c.2511+252C>T	XP_005251851.1:n.2511+252C>T
XM_005251794.4:c.2511+252C>T	XP_005251851.1:n.2511+252C>T
XM_006716998.2:c.2514+252C>T	XP_006717061.1:n.2514+252C>T
XM_006716998.3:c.2514+252C>T	XP_006717061.1:n.2514+252C>T
XM_006716999.2:c.2340+252C>T	XP_006717062.1:n.2340+252C>T
XM_006716999.3:c.2340+252C>T	XP_006717062.1:n.2340+252C>T
XM_011518357.1:c.1524+252C>T	XP_011516659.1:n.1524+252C>T
XM_017014445.1:c.2511+252C>T	XP_016869934.1:n.2511+252C>T
XM_017014447.1:c.1263+252C>T	XP_016869936.1:n.1263+252C>T
XM_024447445.1:c.2232+252C>T	XP_024303213.1:n.2232+252C>T
XM_024447447.1:c.1929+252C>T	XP_024303215.1:n.1929+252C>T
XR_001746230.1:n.1616+252C>T
XR_242576.3:n.2549+252C>T
XR_428520.2:n.2553+252C>T
XR_428520.3:n.2552+252C>T
XR_929736.1:n.2553+252C>T
XR_929736.2:n.2552+252C>T
XR_929737.1:n.1651+252C>T