Canonical Allele Identifier: CA2718275408

Gene: NTAQ1

Linked Data

• dbSNP Id: rs2130307512

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123438025C>A , CM000670.2:g.123438025C>A	GRCh38
NC_000008.10:g.124450265C>A , CM000670.1:g.124450265C>A	GRCh37
NC_000008.9:g.124519446C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287387.7:c.508+691C>A MANE Select	ENSP00000287387.2:n.508+691C>A
ENST00000650311.1:c.328+691C>A	ENSP00000497747.1:n.328+691C>A
ENST00000287387.6:c.508+691C>A	ENSP00000287387.2:n.508+691C>A
ENST00000517609.5:n.591+691C>A
ENST00000518125.1:c.64+691C>A	ENSP00000429258.1:n.64+691C>A
ENST00000519199.5:c.658+691C>A
ENST00000523356.1:c.509-109C>A	ENSP00000428615.1:n.509-109C>A
ENST00000523551.1:n.479+691C>A
ENST00000523984.5:c.328+691C>A	ENSP00000430427.1:n.328+691C>A
ENST00000524254.5:n.527+691C>A
NM_001283024.1:c.328+691C>A	NP_001269953.1:n.328+691C>A
NM_001283027.1:c.304+691C>A	NP_001269956.1:n.304+691C>A
NM_018024.2:c.508+691C>A	NP_060494.1:n.508+691C>A
XM_006716597.2:c.509-109C>A	XP_006716660.1:n.509-109C>A
XM_011517146.1:c.508+691C>A	XP_011515448.1:n.508+691C>A
XM_011517147.1:c.508+691C>A	XP_011515449.1:n.508+691C>A
XM_011517148.1:c.328+691C>A	XP_011515450.1:n.328+691C>A
XM_011517149.1:c.304+691C>A	XP_011515451.1:n.304+691C>A
XM_011517150.1:c.304+691C>A	XP_011515452.1:n.304+691C>A
XM_011517151.1:c.304+691C>A	XP_011515453.1:n.304+691C>A
XR_928337.1:n.633+691C>A
XR_928338.1:n.546+691C>A
NR_133926.1:n.557+691C>A
XM_006716597.3:c.509-109C>A	XP_006716660.1:n.509-109C>A
XM_011517151.2:c.304+691C>A	XP_011515453.1:n.304+691C>A
XM_017013601.1:c.508+691C>A	XP_016869090.1:n.508+691C>A
XM_017013602.1:c.328+691C>A	XP_016869091.1:n.328+691C>A
XM_017013603.1:c.328+691C>A	XP_016869092.1:n.328+691C>A
XR_002956634.1:n.626+691C>A
XR_002956635.1:n.581+691C>A
XR_002956636.1:n.581+691C>A
XR_928337.3:n.633+691C>A
NM_018024.3:c.508+691C>A MANE Select	NP_060494.1:n.508+691C>A
NR_133926.2:n.508+691C>A