Canonical Allele Identifier: CA7150912

Gene: NPAS3

Linked Data

• dbSNP Id: rs758175188
• ExAC: 14:34269444 C / T
• gnomAD v2: 14-34269444-C-T
• gnomAD v4: 14-33800238-C-T
• MyVariant Identifiers: chr14:g.34269444C>T (hg19) ; chr14:g.33800238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800238C>T , CM000676.2:g.33800238C>T	GRCh38
NC_000014.8:g.34269444C>T , CM000676.1:g.34269444C>T	GRCh37
NC_000014.7:g.33339195C>T	NCBI36
NG_013036.1:g.865986C>T
NG_013036.2:g.865986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1931C>T MANE Select	ENSP00000348460.4:p.Ser644Leu
ENST00000551634.6:c.1940C>T	ENSP00000448373.2:p.Ser647Leu
ENST00000680362.1:c.1831C>T
ENST00000681323.1:c.793+2657C>T
ENST00000346562.6:c.1835C>T	ENSP00000319610.5:p.Ser612Leu
ENST00000356141.8:c.1931C>T	ENSP00000348460.4:p.Ser644Leu
ENST00000357798.9:c.1892C>T	ENSP00000350446.5:p.Ser631Leu
ENST00000548645.5:c.1841C>T	ENSP00000448916.1:p.Ser614Leu
ENST00000551492.5:c.1946C>T	ENSP00000450392.1:p.Ser649Leu
ENST00000551634.5:c.1853C>T	ENSP00000448373.1:p.Ser618Leu
NM_001164749.1:c.1931C>T	NP_001158221.1:p.Ser644Leu
NM_001165893.1:c.1841C>T	NP_001159365.1:p.Ser614Leu
NM_022123.2:c.1835C>T	NP_071406.1:p.Ser612Leu
NM_173159.2:c.1892C>T	NP_775182.1:p.Ser631Leu
XM_005267991.2:c.1952C>T	XP_005268048.1:p.Ser651Leu
XM_005267992.2:c.1946C>T	XP_005268049.1:p.Ser649Leu
XM_005267993.2:c.1892C>T	XP_005268050.1:p.Ser631Leu
XM_011537067.1:c.1982C>T	XP_011535369.1:p.Ser661Leu
XM_011537068.1:c.1973C>T	XP_011535370.1:p.Ser658Leu
XM_011537069.1:c.1943C>T	XP_011535371.1:p.Ser648Leu
XM_011537070.1:c.1886C>T	XP_011535372.1:p.Ser629Leu
XM_011537071.1:c.1853C>T	XP_011535373.1:p.Ser618Leu
XM_011537072.1:c.1832C>T	XP_011535374.1:p.Ser611Leu
XM_011537073.1:c.1625C>T	XP_011535375.1:p.Ser542Leu
XM_011537074.1:c.1625C>T	XP_011535376.1:p.Ser542Leu
XM_005267991.3:c.2039C>T	XP_005268048.2:p.Ser680Leu
XM_005267992.3:c.2033C>T	XP_005268049.2:p.Ser678Leu
XM_011537067.2:c.1982C>T	XP_011535369.1:p.Ser661Leu
XM_011537069.2:c.2030C>T	XP_011535371.2:p.Ser677Leu
XM_011537070.2:c.1886C>T	XP_011535372.1:p.Ser629Leu
XM_011537071.2:c.1940C>T	XP_011535373.2:p.Ser647Leu
XM_011537072.2:c.1832C>T	XP_011535374.1:p.Ser611Leu
XM_017021582.1:c.2090C>T	XP_016877071.1:p.Ser697Leu
XM_017021583.1:c.2081C>T	XP_016877072.1:p.Ser694Leu
XM_017021584.1:c.2000C>T	XP_016877073.1:p.Ser667Leu
XM_017021585.1:c.1949C>T	XP_016877074.1:p.Ser650Leu
XM_017021586.1:c.1625C>T	XP_016877075.1:p.Ser542Leu
XM_017021587.1:c.1625C>T	XP_016877076.1:p.Ser542Leu
XM_017021588.1:c.1625C>T	XP_016877077.1:p.Ser542Leu
NM_001164749.2:c.1931C>T MANE Select	NP_001158221.1:p.Ser644Leu
NM_001165893.2:c.1841C>T	NP_001159365.1:p.Ser614Leu
NM_022123.3:c.1835C>T	NP_071406.1:p.Ser612Leu
NM_173159.3:c.1892C>T	NP_775182.1:p.Ser631Leu
NM_001394988.1:c.1886C>T	NP_001381917.1:p.Ser629Leu
NM_001394989.1:c.1832C>T	NP_001381918.1:p.Ser611Leu