Canonical Allele Identifier: CA389414049

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800442-C-A
• MyVariant Identifiers: chr14:g.34269648C>A (hg19) ; chr14:g.33800442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800442C>A , CM000676.2:g.33800442C>A	GRCh38
NC_000014.8:g.34269648C>A , CM000676.1:g.34269648C>A	GRCh37
NC_000014.7:g.33339399C>A	NCBI36
NG_013036.1:g.866190C>A
NG_013036.2:g.866190C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2135C>A MANE Select	ENSP00000348460.4:p.Pro712His
ENST00000551634.6:c.2144C>A	ENSP00000448373.2:p.Pro715His
ENST00000680362.1:c.2035C>A
ENST00000681323.1:c.793+2861C>A
ENST00000346562.6:c.2039C>A	ENSP00000319610.5:p.Pro680His
ENST00000356141.8:c.2135C>A	ENSP00000348460.4:p.Pro712His
ENST00000357798.9:c.2096C>A	ENSP00000350446.5:p.Pro699His
ENST00000548645.5:c.2045C>A	ENSP00000448916.1:p.Pro682His
ENST00000551492.5:c.2150C>A	ENSP00000450392.1:p.Pro717His
ENST00000551634.5:c.2057C>A	ENSP00000448373.1:p.Pro686His
NM_001164749.1:c.2135C>A	NP_001158221.1:p.Pro712His
NM_001165893.1:c.2045C>A	NP_001159365.1:p.Pro682His
NM_022123.2:c.2039C>A	NP_071406.1:p.Pro680His
NM_173159.2:c.2096C>A	NP_775182.1:p.Pro699His
XM_005267991.2:c.2156C>A	XP_005268048.1:p.Pro719His
XM_005267992.2:c.2150C>A	XP_005268049.1:p.Pro717His
XM_005267993.2:c.2096C>A	XP_005268050.1:p.Pro699His
XM_011537067.1:c.2186C>A	XP_011535369.1:p.Pro729His
XM_011537068.1:c.2177C>A	XP_011535370.1:p.Pro726His
XM_011537069.1:c.2147C>A	XP_011535371.1:p.Pro716His
XM_011537070.1:c.2090C>A	XP_011535372.1:p.Pro697His
XM_011537071.1:c.2057C>A	XP_011535373.1:p.Pro686His
XM_011537072.1:c.2036C>A	XP_011535374.1:p.Pro679His
XM_011537073.1:c.1829C>A	XP_011535375.1:p.Pro610His
XM_011537074.1:c.1829C>A	XP_011535376.1:p.Pro610His
XM_005267991.3:c.2243C>A	XP_005268048.2:p.Pro748His
XM_005267992.3:c.2237C>A	XP_005268049.2:p.Pro746His
XM_011537067.2:c.2186C>A	XP_011535369.1:p.Pro729His
XM_011537069.2:c.2234C>A	XP_011535371.2:p.Pro745His
XM_011537070.2:c.2090C>A	XP_011535372.1:p.Pro697His
XM_011537071.2:c.2144C>A	XP_011535373.2:p.Pro715His
XM_011537072.2:c.2036C>A	XP_011535374.1:p.Pro679His
XM_017021582.1:c.2294C>A	XP_016877071.1:p.Pro765His
XM_017021583.1:c.2285C>A	XP_016877072.1:p.Pro762His
XM_017021584.1:c.2204C>A	XP_016877073.1:p.Pro735His
XM_017021585.1:c.2153C>A	XP_016877074.1:p.Pro718His
XM_017021586.1:c.1829C>A	XP_016877075.1:p.Pro610His
XM_017021587.1:c.1829C>A	XP_016877076.1:p.Pro610His
XM_017021588.1:c.1829C>A	XP_016877077.1:p.Pro610His
NM_001164749.2:c.2135C>A MANE Select	NP_001158221.1:p.Pro712His
NM_001165893.2:c.2045C>A	NP_001159365.1:p.Pro682His
NM_022123.3:c.2039C>A	NP_071406.1:p.Pro680His
NM_173159.3:c.2096C>A	NP_775182.1:p.Pro699His
NM_001394988.1:c.2090C>A	NP_001381917.1:p.Pro697His
NM_001394989.1:c.2036C>A	NP_001381918.1:p.Pro679His