Canonical Allele Identifier: CA389412150

Gene: NPAS3

Linked Data

• dbSNP Id: rs1205993148
• gnomAD v4: 14-33800051-G-C
• MyVariant Identifiers: chr14:g.34269257G>C (hg19) ; chr14:g.33800051G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800051G>C , CM000676.2:g.33800051G>C	GRCh38
NC_000014.8:g.34269257G>C , CM000676.1:g.34269257G>C	GRCh37
NC_000014.7:g.33339008G>C	NCBI36
NG_013036.1:g.865799G>C
NG_013036.2:g.865799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1744G>C MANE Select	ENSP00000348460.4:p.Asp582His
ENST00000551634.6:c.1753G>C	ENSP00000448373.2:p.Asp585His
ENST00000680362.1:c.1644G>C
ENST00000681323.1:c.793+2470G>C
ENST00000346562.6:c.1648G>C	ENSP00000319610.5:p.Asp550His
ENST00000356141.8:c.1744G>C	ENSP00000348460.4:p.Asp582His
ENST00000357798.9:c.1705G>C	ENSP00000350446.5:p.Asp569His
ENST00000548645.5:c.1654G>C	ENSP00000448916.1:p.Asp552His
ENST00000551492.5:c.1759G>C	ENSP00000450392.1:p.Asp587His
ENST00000551634.5:c.1666G>C	ENSP00000448373.1:p.Asp556His
NM_001164749.1:c.1744G>C	NP_001158221.1:p.Asp582His
NM_001165893.1:c.1654G>C	NP_001159365.1:p.Asp552His
NM_022123.2:c.1648G>C	NP_071406.1:p.Asp550His
NM_173159.2:c.1705G>C	NP_775182.1:p.Asp569His
XM_005267991.2:c.1765G>C	XP_005268048.1:p.Asp589His
XM_005267992.2:c.1759G>C	XP_005268049.1:p.Asp587His
XM_005267993.2:c.1705G>C	XP_005268050.1:p.Asp569His
XM_011537067.1:c.1795G>C	XP_011535369.1:p.Asp599His
XM_011537068.1:c.1786G>C	XP_011535370.1:p.Asp596His
XM_011537069.1:c.1756G>C	XP_011535371.1:p.Asp586His
XM_011537070.1:c.1699G>C	XP_011535372.1:p.Asp567His
XM_011537071.1:c.1666G>C	XP_011535373.1:p.Asp556His
XM_011537072.1:c.1645G>C	XP_011535374.1:p.Asp549His
XM_011537073.1:c.1438G>C	XP_011535375.1:p.Asp480His
XM_011537074.1:c.1438G>C	XP_011535376.1:p.Asp480His
XM_005267991.3:c.1852G>C	XP_005268048.2:p.Asp618His
XM_005267992.3:c.1846G>C	XP_005268049.2:p.Asp616His
XM_011537067.2:c.1795G>C	XP_011535369.1:p.Asp599His
XM_011537069.2:c.1843G>C	XP_011535371.2:p.Asp615His
XM_011537070.2:c.1699G>C	XP_011535372.1:p.Asp567His
XM_011537071.2:c.1753G>C	XP_011535373.2:p.Asp585His
XM_011537072.2:c.1645G>C	XP_011535374.1:p.Asp549His
XM_017021582.1:c.1903G>C	XP_016877071.1:p.Asp635His
XM_017021583.1:c.1894G>C	XP_016877072.1:p.Asp632His
XM_017021584.1:c.1813G>C	XP_016877073.1:p.Asp605His
XM_017021585.1:c.1762G>C	XP_016877074.1:p.Asp588His
XM_017021586.1:c.1438G>C	XP_016877075.1:p.Asp480His
XM_017021587.1:c.1438G>C	XP_016877076.1:p.Asp480His
XM_017021588.1:c.1438G>C	XP_016877077.1:p.Asp480His
NM_001164749.2:c.1744G>C MANE Select	NP_001158221.1:p.Asp582His
NM_001165893.2:c.1654G>C	NP_001159365.1:p.Asp552His
NM_022123.3:c.1648G>C	NP_071406.1:p.Asp550His
NM_173159.3:c.1705G>C	NP_775182.1:p.Asp569His
NM_001394988.1:c.1699G>C	NP_001381917.1:p.Asp567His
NM_001394989.1:c.1645G>C	NP_001381918.1:p.Asp549His