Canonical Allele Identifier: CA1816524340

Gene: NTAQ1

Linked Data

• dbSNP Id: rs1814836094
• gnomAD v4: 8-123438111-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123438111T>C , CM000670.2:g.123438111T>C	GRCh38
NC_000008.10:g.124450351T>C , CM000670.1:g.124450351T>C	GRCh37
NC_000008.9:g.124519532T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287387.7:c.508+777T>C MANE Select	ENSP00000287387.2:n.508+777T>C
ENST00000650311.1:c.328+777T>C	ENSP00000497747.1:n.328+777T>C
ENST00000287387.6:c.508+777T>C	ENSP00000287387.2:n.508+777T>C
ENST00000517609.5:n.591+777T>C
ENST00000518125.1:c.64+777T>C	ENSP00000429258.1:n.64+777T>C
ENST00000519199.5:c.658+777T>C
ENST00000523356.1:c.509-23T>C	ENSP00000428615.1:n.509-23T>C
ENST00000523551.1:n.479+777T>C
ENST00000523984.5:c.328+777T>C	ENSP00000430427.1:n.328+777T>C
ENST00000524254.5:n.527+777T>C
NM_001283024.1:c.328+777T>C	NP_001269953.1:n.328+777T>C
NM_001283027.1:c.304+777T>C	NP_001269956.1:n.304+777T>C
NM_018024.2:c.508+777T>C	NP_060494.1:n.508+777T>C
XM_006716597.2:c.509-23T>C	XP_006716660.1:n.509-23T>C
XM_011517146.1:c.508+777T>C	XP_011515448.1:n.508+777T>C
XM_011517147.1:c.508+777T>C	XP_011515449.1:n.508+777T>C
XM_011517148.1:c.328+777T>C	XP_011515450.1:n.328+777T>C
XM_011517149.1:c.304+777T>C	XP_011515451.1:n.304+777T>C
XM_011517150.1:c.304+777T>C	XP_011515452.1:n.304+777T>C
XM_011517151.1:c.304+777T>C	XP_011515453.1:n.304+777T>C
XR_928337.1:n.633+777T>C
XR_928338.1:n.546+777T>C
NR_133926.1:n.557+777T>C
XM_006716597.3:c.509-23T>C	XP_006716660.1:n.509-23T>C
XM_011517151.2:c.304+777T>C	XP_011515453.1:n.304+777T>C
XM_017013601.1:c.508+777T>C	XP_016869090.1:n.508+777T>C
XM_017013602.1:c.328+777T>C	XP_016869091.1:n.328+777T>C
XM_017013603.1:c.328+777T>C	XP_016869092.1:n.328+777T>C
XR_002956634.1:n.626+777T>C
XR_002956635.1:n.581+777T>C
XR_002956636.1:n.581+777T>C
XR_928337.3:n.633+777T>C
NM_018024.3:c.508+777T>C MANE Select	NP_060494.1:n.508+777T>C
NR_133926.2:n.508+777T>C