Canonical Allele Identifier: CA374218569

Gene: ANKS6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98790239G>A , CM000671.2:g.98790239G>A	GRCh38
NC_000009.11:g.101552521G>A , CM000671.1:g.101552521G>A	GRCh37
NC_000009.10:g.100592342G>A	NCBI36
NG_042237.1:g.11304C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173551.5:c.727C>T MANE Select	NP_775822.3:p.Gln243Ter
ENST00000353234.5:c.727C>T MANE Select	ENSP00000297837.6:p.Gln243Ter
NM_173551.3:c.727C>T	NP_775822.3:p.Gln243Ter
NM_173551.4:c.727C>T	NP_775822.3:p.Gln243Ter
ENST00000353234.4:c.727C>T	ENSP00000297837.6:p.Gln243Ter
ENST00000375019.6:c.-41-5363C>T	ENSP00000364159.2:n.-41-5363C>T
ENST00000466120.1:n.258C>T
ENST00000471846.1:n.775C>T
ENST00000634393.1:n.7+5751C>T
XM_005251793.3:c.727C>T	XP_005251850.1:p.Gln243Ter
XM_005251793.4:c.727C>T	XP_005251850.1:p.Gln243Ter
XM_005251794.3:c.727C>T	XP_005251851.1:p.Gln243Ter
XM_005251794.4:c.727C>T	XP_005251851.1:p.Gln243Ter
XM_006716998.2:c.727C>T	XP_006717061.1:p.Gln243Ter
XM_006716998.3:c.727C>T	XP_006717061.1:p.Gln243Ter
XM_006716999.2:c.553C>T	XP_006717062.1:p.Gln185Ter
XM_006716999.3:c.553C>T	XP_006717062.1:p.Gln185Ter
XM_011518356.1:c.727C>T	XP_011516658.1:p.Gln243Ter
XM_017014445.1:c.727C>T	XP_016869934.1:p.Gln243Ter
XM_024447445.1:c.445C>T	XP_024303213.1:p.Gln149Ter
XM_024447447.1:c.142C>T	XP_024303215.1:p.Gln48Ter
XR_242576.3:n.765C>T
XR_428520.2:n.766C>T
XR_428520.3:n.765C>T
XR_929736.1:n.766C>T
XR_929736.2:n.765C>T