Canonical Allele Identifier: CA389414127

Gene: NPAS3

Linked Data

• dbSNP Id: rs1413834132
• gnomAD v2: 14-34269683-G-A
• gnomAD v4: 14-33800477-G-A
• COSMIC: COSM6417484 ; COSM6417485 ; COSM6417486
• MyVariant Identifiers: chr14:g.34269683G>A (hg19) ; chr14:g.33800477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800477G>A , CM000676.2:g.33800477G>A	GRCh38
NC_000014.8:g.34269683G>A , CM000676.1:g.34269683G>A	GRCh37
NC_000014.7:g.33339434G>A	NCBI36
NG_013036.1:g.866225G>A
NG_013036.2:g.866225G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2170G>A MANE Select	ENSP00000348460.4:p.Ala724Thr
ENST00000551634.6:c.2179G>A	ENSP00000448373.2:p.Ala727Thr
ENST00000680362.1:c.2070G>A
ENST00000681323.1:c.793+2896G>A
ENST00000346562.6:c.2074G>A	ENSP00000319610.5:p.Ala692Thr
ENST00000356141.8:c.2170G>A	ENSP00000348460.4:p.Ala724Thr
ENST00000357798.9:c.2131G>A	ENSP00000350446.5:p.Ala711Thr
ENST00000548645.5:c.2080G>A	ENSP00000448916.1:p.Ala694Thr
ENST00000551492.5:c.2185G>A	ENSP00000450392.1:p.Ala729Thr
ENST00000551634.5:c.2092G>A	ENSP00000448373.1:p.Ala698Thr
NM_001164749.1:c.2170G>A	NP_001158221.1:p.Ala724Thr
NM_001165893.1:c.2080G>A	NP_001159365.1:p.Ala694Thr
NM_022123.2:c.2074G>A	NP_071406.1:p.Ala692Thr
NM_173159.2:c.2131G>A	NP_775182.1:p.Ala711Thr
XM_005267991.2:c.2191G>A	XP_005268048.1:p.Ala731Thr
XM_005267992.2:c.2185G>A	XP_005268049.1:p.Ala729Thr
XM_005267993.2:c.2131G>A	XP_005268050.1:p.Ala711Thr
XM_011537067.1:c.2221G>A	XP_011535369.1:p.Ala741Thr
XM_011537068.1:c.2212G>A	XP_011535370.1:p.Ala738Thr
XM_011537069.1:c.2182G>A	XP_011535371.1:p.Ala728Thr
XM_011537070.1:c.2125G>A	XP_011535372.1:p.Ala709Thr
XM_011537071.1:c.2092G>A	XP_011535373.1:p.Ala698Thr
XM_011537072.1:c.2071G>A	XP_011535374.1:p.Ala691Thr
XM_011537073.1:c.1864G>A	XP_011535375.1:p.Ala622Thr
XM_011537074.1:c.1864G>A	XP_011535376.1:p.Ala622Thr
XM_005267991.3:c.2278G>A	XP_005268048.2:p.Ala760Thr
XM_005267992.3:c.2272G>A	XP_005268049.2:p.Ala758Thr
XM_011537067.2:c.2221G>A	XP_011535369.1:p.Ala741Thr
XM_011537069.2:c.2269G>A	XP_011535371.2:p.Ala757Thr
XM_011537070.2:c.2125G>A	XP_011535372.1:p.Ala709Thr
XM_011537071.2:c.2179G>A	XP_011535373.2:p.Ala727Thr
XM_011537072.2:c.2071G>A	XP_011535374.1:p.Ala691Thr
XM_017021582.1:c.2329G>A	XP_016877071.1:p.Ala777Thr
XM_017021583.1:c.2320G>A	XP_016877072.1:p.Ala774Thr
XM_017021584.1:c.2239G>A	XP_016877073.1:p.Ala747Thr
XM_017021585.1:c.2188G>A	XP_016877074.1:p.Ala730Thr
XM_017021586.1:c.1864G>A	XP_016877075.1:p.Ala622Thr
XM_017021587.1:c.1864G>A	XP_016877076.1:p.Ala622Thr
XM_017021588.1:c.1864G>A	XP_016877077.1:p.Ala622Thr
NM_001164749.2:c.2170G>A MANE Select	NP_001158221.1:p.Ala724Thr
NM_001165893.2:c.2080G>A	NP_001159365.1:p.Ala694Thr
NM_022123.3:c.2074G>A	NP_071406.1:p.Ala692Thr
NM_173159.3:c.2131G>A	NP_775182.1:p.Ala711Thr
NM_001394988.1:c.2125G>A	NP_001381917.1:p.Ala709Thr
NM_001394989.1:c.2071G>A	NP_001381918.1:p.Ala691Thr