Canonical Allele Identifier: CA4866313

Gene: NTAQ1

Linked Data

• dbSNP Id: rs3765212
• ExAC: 8:124450364 G / T
• gnomAD v2: 8-124450364-G-T
• gnomAD v3: 8-123438124-G-T
• gnomAD v4: 8-123438124-G-T
• MyVariant Identifiers: chr8:g.124450364G>T (hg19) ; chr8:g.123438124G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123438124G>T , CM000670.2:g.123438124G>T	GRCh38
NC_000008.10:g.124450364G>T , CM000670.1:g.124450364G>T	GRCh37
NC_000008.9:g.124519545G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000287387.7:c.508+790G>T MANE Select	ENSP00000287387.2:n.508+790G>T
ENST00000650311.1:c.328+790G>T	ENSP00000497747.1:n.328+790G>T
ENST00000287387.6:c.508+790G>T	ENSP00000287387.2:n.508+790G>T
ENST00000517609.5:n.591+790G>T
ENST00000518125.1:c.64+790G>T	ENSP00000429258.1:n.64+790G>T
ENST00000519199.5:c.658+790G>T
ENST00000523356.1:c.509-10G>T	ENSP00000428615.1:n.509-10G>T
ENST00000523551.1:n.479+790G>T
ENST00000523984.5:c.328+790G>T	ENSP00000430427.1:n.328+790G>T
ENST00000524254.5:n.527+790G>T
NM_001283024.1:c.328+790G>T	NP_001269953.1:n.328+790G>T
NM_001283027.1:c.304+790G>T	NP_001269956.1:n.304+790G>T
NM_018024.2:c.508+790G>T	NP_060494.1:n.508+790G>T
XM_006716597.2:c.509-10G>T	XP_006716660.1:n.509-10G>T
XM_011517146.1:c.508+790G>T	XP_011515448.1:n.508+790G>T
XM_011517147.1:c.508+790G>T	XP_011515449.1:n.508+790G>T
XM_011517148.1:c.328+790G>T	XP_011515450.1:n.328+790G>T
XM_011517149.1:c.304+790G>T	XP_011515451.1:n.304+790G>T
XM_011517150.1:c.304+790G>T	XP_011515452.1:n.304+790G>T
XM_011517151.1:c.304+790G>T	XP_011515453.1:n.304+790G>T
XR_928337.1:n.633+790G>T
XR_928338.1:n.546+790G>T
NR_133926.1:n.557+790G>T
XM_006716597.3:c.509-10G>T	XP_006716660.1:n.509-10G>T
XM_011517151.2:c.304+790G>T	XP_011515453.1:n.304+790G>T
XM_017013601.1:c.508+790G>T	XP_016869090.1:n.508+790G>T
XM_017013602.1:c.328+790G>T	XP_016869091.1:n.328+790G>T
XM_017013603.1:c.328+790G>T	XP_016869092.1:n.328+790G>T
XR_002956634.1:n.626+790G>T
XR_002956635.1:n.581+790G>T
XR_002956636.1:n.581+790G>T
XR_928337.3:n.633+790G>T
NM_018024.3:c.508+790G>T MANE Select	NP_060494.1:n.508+790G>T
NR_133926.2:n.508+790G>T