Canonical Allele Identifier: CA258718913

Gene: NPAS3

Linked Data

• dbSNP Id: rs377100713
• gnomAD v2: 14-34269432-C-G
• gnomAD v3: 14-33800226-C-G
• gnomAD v4: 14-33800226-C-G
• MyVariant Identifiers: chr14:g.34269432C>G (hg19) ; chr14:g.33800226C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800226C>G , CM000676.2:g.33800226C>G	GRCh38
NC_000014.8:g.34269432C>G , CM000676.1:g.34269432C>G	GRCh37
NC_000014.7:g.33339183C>G	NCBI36
NG_013036.1:g.865974C>G
NG_013036.2:g.865974C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1919C>G MANE Select	ENSP00000348460.4:p.Pro640Arg
ENST00000551634.6:c.1928C>G	ENSP00000448373.2:p.Pro643Arg
ENST00000680362.1:c.1819C>G
ENST00000681323.1:c.793+2645C>G
ENST00000346562.6:c.1823C>G	ENSP00000319610.5:p.Pro608Arg
ENST00000356141.8:c.1919C>G	ENSP00000348460.4:p.Pro640Arg
ENST00000357798.9:c.1880C>G	ENSP00000350446.5:p.Pro627Arg
ENST00000548645.5:c.1829C>G	ENSP00000448916.1:p.Pro610Arg
ENST00000551492.5:c.1934C>G	ENSP00000450392.1:p.Pro645Arg
ENST00000551634.5:c.1841C>G	ENSP00000448373.1:p.Pro614Arg
NM_001164749.1:c.1919C>G	NP_001158221.1:p.Pro640Arg
NM_001165893.1:c.1829C>G	NP_001159365.1:p.Pro610Arg
NM_022123.2:c.1823C>G	NP_071406.1:p.Pro608Arg
NM_173159.2:c.1880C>G	NP_775182.1:p.Pro627Arg
XM_005267991.2:c.1940C>G	XP_005268048.1:p.Pro647Arg
XM_005267992.2:c.1934C>G	XP_005268049.1:p.Pro645Arg
XM_005267993.2:c.1880C>G	XP_005268050.1:p.Pro627Arg
XM_011537067.1:c.1970C>G	XP_011535369.1:p.Pro657Arg
XM_011537068.1:c.1961C>G	XP_011535370.1:p.Pro654Arg
XM_011537069.1:c.1931C>G	XP_011535371.1:p.Pro644Arg
XM_011537070.1:c.1874C>G	XP_011535372.1:p.Pro625Arg
XM_011537071.1:c.1841C>G	XP_011535373.1:p.Pro614Arg
XM_011537072.1:c.1820C>G	XP_011535374.1:p.Pro607Arg
XM_011537073.1:c.1613C>G	XP_011535375.1:p.Pro538Arg
XM_011537074.1:c.1613C>G	XP_011535376.1:p.Pro538Arg
XM_005267991.3:c.2027C>G	XP_005268048.2:p.Pro676Arg
XM_005267992.3:c.2021C>G	XP_005268049.2:p.Pro674Arg
XM_011537067.2:c.1970C>G	XP_011535369.1:p.Pro657Arg
XM_011537069.2:c.2018C>G	XP_011535371.2:p.Pro673Arg
XM_011537070.2:c.1874C>G	XP_011535372.1:p.Pro625Arg
XM_011537071.2:c.1928C>G	XP_011535373.2:p.Pro643Arg
XM_011537072.2:c.1820C>G	XP_011535374.1:p.Pro607Arg
XM_017021582.1:c.2078C>G	XP_016877071.1:p.Pro693Arg
XM_017021583.1:c.2069C>G	XP_016877072.1:p.Pro690Arg
XM_017021584.1:c.1988C>G	XP_016877073.1:p.Pro663Arg
XM_017021585.1:c.1937C>G	XP_016877074.1:p.Pro646Arg
XM_017021586.1:c.1613C>G	XP_016877075.1:p.Pro538Arg
XM_017021587.1:c.1613C>G	XP_016877076.1:p.Pro538Arg
XM_017021588.1:c.1613C>G	XP_016877077.1:p.Pro538Arg
NM_001164749.2:c.1919C>G MANE Select	NP_001158221.1:p.Pro640Arg
NM_001165893.2:c.1829C>G	NP_001159365.1:p.Pro610Arg
NM_022123.3:c.1823C>G	NP_071406.1:p.Pro608Arg
NM_173159.3:c.1880C>G	NP_775182.1:p.Pro627Arg
NM_001394988.1:c.1874C>G	NP_001381917.1:p.Pro625Arg
NM_001394989.1:c.1820C>G	NP_001381918.1:p.Pro607Arg