Canonical Allele Identifier: CA389414276

Gene: NPAS3

Linked Data

• dbSNP Id: rs1566559481
• gnomAD v4: 14-33800552-C-T
• MyVariant Identifiers: chr14:g.34269758C>T (hg19) ; chr14:g.33800552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800552C>T , CM000676.2:g.33800552C>T	GRCh38
NC_000014.8:g.34269758C>T , CM000676.1:g.34269758C>T	GRCh37
NC_000014.7:g.33339509C>T	NCBI36
NG_013036.1:g.866300C>T
NG_013036.2:g.866300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2245C>T MANE Select	ENSP00000348460.4:p.Pro749Ser
ENST00000551634.6:c.2254C>T	ENSP00000448373.2:p.Pro752Ser
ENST00000680362.1:c.2145C>T
ENST00000681323.1:c.793+2971C>T
ENST00000346562.6:c.2149C>T	ENSP00000319610.5:p.Pro717Ser
ENST00000356141.8:c.2245C>T	ENSP00000348460.4:p.Pro749Ser
ENST00000357798.9:c.2206C>T	ENSP00000350446.5:p.Pro736Ser
ENST00000548645.5:c.2155C>T	ENSP00000448916.1:p.Pro719Ser
ENST00000551492.5:c.2260C>T	ENSP00000450392.1:p.Pro754Ser
ENST00000551634.5:c.2167C>T	ENSP00000448373.1:p.Pro723Ser
NM_001164749.1:c.2245C>T	NP_001158221.1:p.Pro749Ser
NM_001165893.1:c.2155C>T	NP_001159365.1:p.Pro719Ser
NM_022123.2:c.2149C>T	NP_071406.1:p.Pro717Ser
NM_173159.2:c.2206C>T	NP_775182.1:p.Pro736Ser
XM_005267991.2:c.2266C>T	XP_005268048.1:p.Pro756Ser
XM_005267992.2:c.2260C>T	XP_005268049.1:p.Pro754Ser
XM_005267993.2:c.2206C>T	XP_005268050.1:p.Pro736Ser
XM_011537067.1:c.2296C>T	XP_011535369.1:p.Pro766Ser
XM_011537068.1:c.2287C>T	XP_011535370.1:p.Pro763Ser
XM_011537069.1:c.2257C>T	XP_011535371.1:p.Pro753Ser
XM_011537070.1:c.2200C>T	XP_011535372.1:p.Pro734Ser
XM_011537071.1:c.2167C>T	XP_011535373.1:p.Pro723Ser
XM_011537072.1:c.2146C>T	XP_011535374.1:p.Pro716Ser
XM_011537073.1:c.1939C>T	XP_011535375.1:p.Pro647Ser
XM_011537074.1:c.1939C>T	XP_011535376.1:p.Pro647Ser
XM_005267991.3:c.2353C>T	XP_005268048.2:p.Pro785Ser
XM_005267992.3:c.2347C>T	XP_005268049.2:p.Pro783Ser
XM_011537067.2:c.2296C>T	XP_011535369.1:p.Pro766Ser
XM_011537069.2:c.2344C>T	XP_011535371.2:p.Pro782Ser
XM_011537070.2:c.2200C>T	XP_011535372.1:p.Pro734Ser
XM_011537071.2:c.2254C>T	XP_011535373.2:p.Pro752Ser
XM_011537072.2:c.2146C>T	XP_011535374.1:p.Pro716Ser
XM_017021582.1:c.2404C>T	XP_016877071.1:p.Pro802Ser
XM_017021583.1:c.2395C>T	XP_016877072.1:p.Pro799Ser
XM_017021584.1:c.2314C>T	XP_016877073.1:p.Pro772Ser
XM_017021585.1:c.2263C>T	XP_016877074.1:p.Pro755Ser
XM_017021586.1:c.1939C>T	XP_016877075.1:p.Pro647Ser
XM_017021587.1:c.1939C>T	XP_016877076.1:p.Pro647Ser
XM_017021588.1:c.1939C>T	XP_016877077.1:p.Pro647Ser
NM_001164749.2:c.2245C>T MANE Select	NP_001158221.1:p.Pro749Ser
NM_001165893.2:c.2155C>T	NP_001159365.1:p.Pro719Ser
NM_022123.3:c.2149C>T	NP_071406.1:p.Pro717Ser
NM_173159.3:c.2206C>T	NP_775182.1:p.Pro736Ser
NM_001394988.1:c.2200C>T	NP_001381917.1:p.Pro734Ser
NM_001394989.1:c.2146C>T	NP_001381918.1:p.Pro716Ser