Canonical Allele Identifier: CA389412892

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800172-G-A
• MyVariant Identifiers: chr14:g.34269378G>A (hg19) ; chr14:g.33800172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800172G>A , CM000676.2:g.33800172G>A	GRCh38
NC_000014.8:g.34269378G>A , CM000676.1:g.34269378G>A	GRCh37
NC_000014.7:g.33339129G>A	NCBI36
NG_013036.1:g.865920G>A
NG_013036.2:g.865920G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1865G>A MANE Select	ENSP00000348460.4:p.Ser622Asn
ENST00000551634.6:c.1874G>A	ENSP00000448373.2:p.Ser625Asn
ENST00000680362.1:c.1765G>A
ENST00000681323.1:c.793+2591G>A
ENST00000346562.6:c.1769G>A	ENSP00000319610.5:p.Ser590Asn
ENST00000356141.8:c.1865G>A	ENSP00000348460.4:p.Ser622Asn
ENST00000357798.9:c.1826G>A	ENSP00000350446.5:p.Ser609Asn
ENST00000548645.5:c.1775G>A	ENSP00000448916.1:p.Ser592Asn
ENST00000551492.5:c.1880G>A	ENSP00000450392.1:p.Ser627Asn
ENST00000551634.5:c.1787G>A	ENSP00000448373.1:p.Ser596Asn
NM_001164749.1:c.1865G>A	NP_001158221.1:p.Ser622Asn
NM_001165893.1:c.1775G>A	NP_001159365.1:p.Ser592Asn
NM_022123.2:c.1769G>A	NP_071406.1:p.Ser590Asn
NM_173159.2:c.1826G>A	NP_775182.1:p.Ser609Asn
XM_005267991.2:c.1886G>A	XP_005268048.1:p.Ser629Asn
XM_005267992.2:c.1880G>A	XP_005268049.1:p.Ser627Asn
XM_005267993.2:c.1826G>A	XP_005268050.1:p.Ser609Asn
XM_011537067.1:c.1916G>A	XP_011535369.1:p.Ser639Asn
XM_011537068.1:c.1907G>A	XP_011535370.1:p.Ser636Asn
XM_011537069.1:c.1877G>A	XP_011535371.1:p.Ser626Asn
XM_011537070.1:c.1820G>A	XP_011535372.1:p.Ser607Asn
XM_011537071.1:c.1787G>A	XP_011535373.1:p.Ser596Asn
XM_011537072.1:c.1766G>A	XP_011535374.1:p.Ser589Asn
XM_011537073.1:c.1559G>A	XP_011535375.1:p.Ser520Asn
XM_011537074.1:c.1559G>A	XP_011535376.1:p.Ser520Asn
XM_005267991.3:c.1973G>A	XP_005268048.2:p.Ser658Asn
XM_005267992.3:c.1967G>A	XP_005268049.2:p.Ser656Asn
XM_011537067.2:c.1916G>A	XP_011535369.1:p.Ser639Asn
XM_011537069.2:c.1964G>A	XP_011535371.2:p.Ser655Asn
XM_011537070.2:c.1820G>A	XP_011535372.1:p.Ser607Asn
XM_011537071.2:c.1874G>A	XP_011535373.2:p.Ser625Asn
XM_011537072.2:c.1766G>A	XP_011535374.1:p.Ser589Asn
XM_017021582.1:c.2024G>A	XP_016877071.1:p.Ser675Asn
XM_017021583.1:c.2015G>A	XP_016877072.1:p.Ser672Asn
XM_017021584.1:c.1934G>A	XP_016877073.1:p.Ser645Asn
XM_017021585.1:c.1883G>A	XP_016877074.1:p.Ser628Asn
XM_017021586.1:c.1559G>A	XP_016877075.1:p.Ser520Asn
XM_017021587.1:c.1559G>A	XP_016877076.1:p.Ser520Asn
XM_017021588.1:c.1559G>A	XP_016877077.1:p.Ser520Asn
NM_001164749.2:c.1865G>A MANE Select	NP_001158221.1:p.Ser622Asn
NM_001165893.2:c.1775G>A	NP_001159365.1:p.Ser592Asn
NM_022123.3:c.1769G>A	NP_071406.1:p.Ser590Asn
NM_173159.3:c.1826G>A	NP_775182.1:p.Ser609Asn
NM_001394988.1:c.1820G>A	NP_001381917.1:p.Ser607Asn
NM_001394989.1:c.1766G>A	NP_001381918.1:p.Ser589Asn