Canonical Allele Identifier: CA389413347

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063657700
• gnomAD v3: 14-33800283-A-G
• gnomAD v4: 14-33800283-A-G
• MyVariant Identifiers: chr14:g.34269489A>G (hg19) ; chr14:g.33800283A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800283A>G , CM000676.2:g.33800283A>G	GRCh38
NC_000014.8:g.34269489A>G , CM000676.1:g.34269489A>G	GRCh37
NC_000014.7:g.33339240A>G	NCBI36
NG_013036.1:g.866031A>G
NG_013036.2:g.866031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1976A>G MANE Select	ENSP00000348460.4:p.Asp659Gly
ENST00000551634.6:c.1985A>G	ENSP00000448373.2:p.Asp662Gly
ENST00000680362.1:c.1876A>G
ENST00000681323.1:c.793+2702A>G
ENST00000346562.6:c.1880A>G	ENSP00000319610.5:p.Asp627Gly
ENST00000356141.8:c.1976A>G	ENSP00000348460.4:p.Asp659Gly
ENST00000357798.9:c.1937A>G	ENSP00000350446.5:p.Asp646Gly
ENST00000548645.5:c.1886A>G	ENSP00000448916.1:p.Asp629Gly
ENST00000551492.5:c.1991A>G	ENSP00000450392.1:p.Asp664Gly
ENST00000551634.5:c.1898A>G	ENSP00000448373.1:p.Asp633Gly
NM_001164749.1:c.1976A>G	NP_001158221.1:p.Asp659Gly
NM_001165893.1:c.1886A>G	NP_001159365.1:p.Asp629Gly
NM_022123.2:c.1880A>G	NP_071406.1:p.Asp627Gly
NM_173159.2:c.1937A>G	NP_775182.1:p.Asp646Gly
XM_005267991.2:c.1997A>G	XP_005268048.1:p.Asp666Gly
XM_005267992.2:c.1991A>G	XP_005268049.1:p.Asp664Gly
XM_005267993.2:c.1937A>G	XP_005268050.1:p.Asp646Gly
XM_011537067.1:c.2027A>G	XP_011535369.1:p.Asp676Gly
XM_011537068.1:c.2018A>G	XP_011535370.1:p.Asp673Gly
XM_011537069.1:c.1988A>G	XP_011535371.1:p.Asp663Gly
XM_011537070.1:c.1931A>G	XP_011535372.1:p.Asp644Gly
XM_011537071.1:c.1898A>G	XP_011535373.1:p.Asp633Gly
XM_011537072.1:c.1877A>G	XP_011535374.1:p.Asp626Gly
XM_011537073.1:c.1670A>G	XP_011535375.1:p.Asp557Gly
XM_011537074.1:c.1670A>G	XP_011535376.1:p.Asp557Gly
XM_005267991.3:c.2084A>G	XP_005268048.2:p.Asp695Gly
XM_005267992.3:c.2078A>G	XP_005268049.2:p.Asp693Gly
XM_011537067.2:c.2027A>G	XP_011535369.1:p.Asp676Gly
XM_011537069.2:c.2075A>G	XP_011535371.2:p.Asp692Gly
XM_011537070.2:c.1931A>G	XP_011535372.1:p.Asp644Gly
XM_011537071.2:c.1985A>G	XP_011535373.2:p.Asp662Gly
XM_011537072.2:c.1877A>G	XP_011535374.1:p.Asp626Gly
XM_017021582.1:c.2135A>G	XP_016877071.1:p.Asp712Gly
XM_017021583.1:c.2126A>G	XP_016877072.1:p.Asp709Gly
XM_017021584.1:c.2045A>G	XP_016877073.1:p.Asp682Gly
XM_017021585.1:c.1994A>G	XP_016877074.1:p.Asp665Gly
XM_017021586.1:c.1670A>G	XP_016877075.1:p.Asp557Gly
XM_017021587.1:c.1670A>G	XP_016877076.1:p.Asp557Gly
XM_017021588.1:c.1670A>G	XP_016877077.1:p.Asp557Gly
NM_001164749.2:c.1976A>G MANE Select	NP_001158221.1:p.Asp659Gly
NM_001165893.2:c.1886A>G	NP_001159365.1:p.Asp629Gly
NM_022123.3:c.1880A>G	NP_071406.1:p.Asp627Gly
NM_173159.3:c.1937A>G	NP_775182.1:p.Asp646Gly
NM_001394988.1:c.1931A>G	NP_001381917.1:p.Asp644Gly
NM_001394989.1:c.1877A>G	NP_001381918.1:p.Asp626Gly