Canonical Allele Identifier: CA389412154

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800052-A-C
• MyVariant Identifiers: chr14:g.34269258A>C (hg19) ; chr14:g.33800052A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800052A>C , CM000676.2:g.33800052A>C	GRCh38
NC_000014.8:g.34269258A>C , CM000676.1:g.34269258A>C	GRCh37
NC_000014.7:g.33339009A>C	NCBI36
NG_013036.1:g.865800A>C
NG_013036.2:g.865800A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1745A>C MANE Select	ENSP00000348460.4:p.Asp582Ala
ENST00000551634.6:c.1754A>C	ENSP00000448373.2:p.Asp585Ala
ENST00000680362.1:c.1645A>C
ENST00000681323.1:c.793+2471A>C
ENST00000346562.6:c.1649A>C	ENSP00000319610.5:p.Asp550Ala
ENST00000356141.8:c.1745A>C	ENSP00000348460.4:p.Asp582Ala
ENST00000357798.9:c.1706A>C	ENSP00000350446.5:p.Asp569Ala
ENST00000548645.5:c.1655A>C	ENSP00000448916.1:p.Asp552Ala
ENST00000551492.5:c.1760A>C	ENSP00000450392.1:p.Asp587Ala
ENST00000551634.5:c.1667A>C	ENSP00000448373.1:p.Asp556Ala
NM_001164749.1:c.1745A>C	NP_001158221.1:p.Asp582Ala
NM_001165893.1:c.1655A>C	NP_001159365.1:p.Asp552Ala
NM_022123.2:c.1649A>C	NP_071406.1:p.Asp550Ala
NM_173159.2:c.1706A>C	NP_775182.1:p.Asp569Ala
XM_005267991.2:c.1766A>C	XP_005268048.1:p.Asp589Ala
XM_005267992.2:c.1760A>C	XP_005268049.1:p.Asp587Ala
XM_005267993.2:c.1706A>C	XP_005268050.1:p.Asp569Ala
XM_011537067.1:c.1796A>C	XP_011535369.1:p.Asp599Ala
XM_011537068.1:c.1787A>C	XP_011535370.1:p.Asp596Ala
XM_011537069.1:c.1757A>C	XP_011535371.1:p.Asp586Ala
XM_011537070.1:c.1700A>C	XP_011535372.1:p.Asp567Ala
XM_011537071.1:c.1667A>C	XP_011535373.1:p.Asp556Ala
XM_011537072.1:c.1646A>C	XP_011535374.1:p.Asp549Ala
XM_011537073.1:c.1439A>C	XP_011535375.1:p.Asp480Ala
XM_011537074.1:c.1439A>C	XP_011535376.1:p.Asp480Ala
XM_005267991.3:c.1853A>C	XP_005268048.2:p.Asp618Ala
XM_005267992.3:c.1847A>C	XP_005268049.2:p.Asp616Ala
XM_011537067.2:c.1796A>C	XP_011535369.1:p.Asp599Ala
XM_011537069.2:c.1844A>C	XP_011535371.2:p.Asp615Ala
XM_011537070.2:c.1700A>C	XP_011535372.1:p.Asp567Ala
XM_011537071.2:c.1754A>C	XP_011535373.2:p.Asp585Ala
XM_011537072.2:c.1646A>C	XP_011535374.1:p.Asp549Ala
XM_017021582.1:c.1904A>C	XP_016877071.1:p.Asp635Ala
XM_017021583.1:c.1895A>C	XP_016877072.1:p.Asp632Ala
XM_017021584.1:c.1814A>C	XP_016877073.1:p.Asp605Ala
XM_017021585.1:c.1763A>C	XP_016877074.1:p.Asp588Ala
XM_017021586.1:c.1439A>C	XP_016877075.1:p.Asp480Ala
XM_017021587.1:c.1439A>C	XP_016877076.1:p.Asp480Ala
XM_017021588.1:c.1439A>C	XP_016877077.1:p.Asp480Ala
NM_001164749.2:c.1745A>C MANE Select	NP_001158221.1:p.Asp582Ala
NM_001165893.2:c.1655A>C	NP_001159365.1:p.Asp552Ala
NM_022123.3:c.1649A>C	NP_071406.1:p.Asp550Ala
NM_173159.3:c.1706A>C	NP_775182.1:p.Asp569Ala
NM_001394988.1:c.1700A>C	NP_001381917.1:p.Asp567Ala
NM_001394989.1:c.1646A>C	NP_001381918.1:p.Asp549Ala