Canonical Allele Identifier: CA389413093

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269431C>G (hg19) ; chr14:g.33800225C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800225C>G , CM000676.2:g.33800225C>G	GRCh38
NC_000014.8:g.34269431C>G , CM000676.1:g.34269431C>G	GRCh37
NC_000014.7:g.33339182C>G	NCBI36
NG_013036.1:g.865973C>G
NG_013036.2:g.865973C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1918C>G MANE Select	ENSP00000348460.4:p.Pro640Ala
ENST00000551634.6:c.1927C>G	ENSP00000448373.2:p.Pro643Ala
ENST00000680362.1:c.1818C>G
ENST00000681323.1:c.793+2644C>G
ENST00000346562.6:c.1822C>G	ENSP00000319610.5:p.Pro608Ala
ENST00000356141.8:c.1918C>G	ENSP00000348460.4:p.Pro640Ala
ENST00000357798.9:c.1879C>G	ENSP00000350446.5:p.Pro627Ala
ENST00000548645.5:c.1828C>G	ENSP00000448916.1:p.Pro610Ala
ENST00000551492.5:c.1933C>G	ENSP00000450392.1:p.Pro645Ala
ENST00000551634.5:c.1840C>G	ENSP00000448373.1:p.Pro614Ala
NM_001164749.1:c.1918C>G	NP_001158221.1:p.Pro640Ala
NM_001165893.1:c.1828C>G	NP_001159365.1:p.Pro610Ala
NM_022123.2:c.1822C>G	NP_071406.1:p.Pro608Ala
NM_173159.2:c.1879C>G	NP_775182.1:p.Pro627Ala
XM_005267991.2:c.1939C>G	XP_005268048.1:p.Pro647Ala
XM_005267992.2:c.1933C>G	XP_005268049.1:p.Pro645Ala
XM_005267993.2:c.1879C>G	XP_005268050.1:p.Pro627Ala
XM_011537067.1:c.1969C>G	XP_011535369.1:p.Pro657Ala
XM_011537068.1:c.1960C>G	XP_011535370.1:p.Pro654Ala
XM_011537069.1:c.1930C>G	XP_011535371.1:p.Pro644Ala
XM_011537070.1:c.1873C>G	XP_011535372.1:p.Pro625Ala
XM_011537071.1:c.1840C>G	XP_011535373.1:p.Pro614Ala
XM_011537072.1:c.1819C>G	XP_011535374.1:p.Pro607Ala
XM_011537073.1:c.1612C>G	XP_011535375.1:p.Pro538Ala
XM_011537074.1:c.1612C>G	XP_011535376.1:p.Pro538Ala
XM_005267991.3:c.2026C>G	XP_005268048.2:p.Pro676Ala
XM_005267992.3:c.2020C>G	XP_005268049.2:p.Pro674Ala
XM_011537067.2:c.1969C>G	XP_011535369.1:p.Pro657Ala
XM_011537069.2:c.2017C>G	XP_011535371.2:p.Pro673Ala
XM_011537070.2:c.1873C>G	XP_011535372.1:p.Pro625Ala
XM_011537071.2:c.1927C>G	XP_011535373.2:p.Pro643Ala
XM_011537072.2:c.1819C>G	XP_011535374.1:p.Pro607Ala
XM_017021582.1:c.2077C>G	XP_016877071.1:p.Pro693Ala
XM_017021583.1:c.2068C>G	XP_016877072.1:p.Pro690Ala
XM_017021584.1:c.1987C>G	XP_016877073.1:p.Pro663Ala
XM_017021585.1:c.1936C>G	XP_016877074.1:p.Pro646Ala
XM_017021586.1:c.1612C>G	XP_016877075.1:p.Pro538Ala
XM_017021587.1:c.1612C>G	XP_016877076.1:p.Pro538Ala
XM_017021588.1:c.1612C>G	XP_016877077.1:p.Pro538Ala
NM_001164749.2:c.1918C>G MANE Select	NP_001158221.1:p.Pro640Ala
NM_001165893.2:c.1828C>G	NP_001159365.1:p.Pro610Ala
NM_022123.3:c.1822C>G	NP_071406.1:p.Pro608Ala
NM_173159.3:c.1879C>G	NP_775182.1:p.Pro627Ala
NM_001394988.1:c.1873C>G	NP_001381917.1:p.Pro625Ala
NM_001394989.1:c.1819C>G	NP_001381918.1:p.Pro607Ala