Canonical Allele Identifier: CA389413030

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063653588
• gnomAD v3: 14-33800207-C-G
• gnomAD v4: 14-33800207-C-G
• MyVariant Identifiers: chr14:g.34269413C>G (hg19) ; chr14:g.33800207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800207C>G , CM000676.2:g.33800207C>G	GRCh38
NC_000014.8:g.34269413C>G , CM000676.1:g.34269413C>G	GRCh37
NC_000014.7:g.33339164C>G	NCBI36
NG_013036.1:g.865955C>G
NG_013036.2:g.865955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1900C>G MANE Select	ENSP00000348460.4:p.Pro634Ala
ENST00000551634.6:c.1909C>G	ENSP00000448373.2:p.Pro637Ala
ENST00000680362.1:c.1800C>G
ENST00000681323.1:c.793+2626C>G
ENST00000346562.6:c.1804C>G	ENSP00000319610.5:p.Pro602Ala
ENST00000356141.8:c.1900C>G	ENSP00000348460.4:p.Pro634Ala
ENST00000357798.9:c.1861C>G	ENSP00000350446.5:p.Pro621Ala
ENST00000548645.5:c.1810C>G	ENSP00000448916.1:p.Pro604Ala
ENST00000551492.5:c.1915C>G	ENSP00000450392.1:p.Pro639Ala
ENST00000551634.5:c.1822C>G	ENSP00000448373.1:p.Pro608Ala
NM_001164749.1:c.1900C>G	NP_001158221.1:p.Pro634Ala
NM_001165893.1:c.1810C>G	NP_001159365.1:p.Pro604Ala
NM_022123.2:c.1804C>G	NP_071406.1:p.Pro602Ala
NM_173159.2:c.1861C>G	NP_775182.1:p.Pro621Ala
XM_005267991.2:c.1921C>G	XP_005268048.1:p.Pro641Ala
XM_005267992.2:c.1915C>G	XP_005268049.1:p.Pro639Ala
XM_005267993.2:c.1861C>G	XP_005268050.1:p.Pro621Ala
XM_011537067.1:c.1951C>G	XP_011535369.1:p.Pro651Ala
XM_011537068.1:c.1942C>G	XP_011535370.1:p.Pro648Ala
XM_011537069.1:c.1912C>G	XP_011535371.1:p.Pro638Ala
XM_011537070.1:c.1855C>G	XP_011535372.1:p.Pro619Ala
XM_011537071.1:c.1822C>G	XP_011535373.1:p.Pro608Ala
XM_011537072.1:c.1801C>G	XP_011535374.1:p.Pro601Ala
XM_011537073.1:c.1594C>G	XP_011535375.1:p.Pro532Ala
XM_011537074.1:c.1594C>G	XP_011535376.1:p.Pro532Ala
XM_005267991.3:c.2008C>G	XP_005268048.2:p.Pro670Ala
XM_005267992.3:c.2002C>G	XP_005268049.2:p.Pro668Ala
XM_011537067.2:c.1951C>G	XP_011535369.1:p.Pro651Ala
XM_011537069.2:c.1999C>G	XP_011535371.2:p.Pro667Ala
XM_011537070.2:c.1855C>G	XP_011535372.1:p.Pro619Ala
XM_011537071.2:c.1909C>G	XP_011535373.2:p.Pro637Ala
XM_011537072.2:c.1801C>G	XP_011535374.1:p.Pro601Ala
XM_017021582.1:c.2059C>G	XP_016877071.1:p.Pro687Ala
XM_017021583.1:c.2050C>G	XP_016877072.1:p.Pro684Ala
XM_017021584.1:c.1969C>G	XP_016877073.1:p.Pro657Ala
XM_017021585.1:c.1918C>G	XP_016877074.1:p.Pro640Ala
XM_017021586.1:c.1594C>G	XP_016877075.1:p.Pro532Ala
XM_017021587.1:c.1594C>G	XP_016877076.1:p.Pro532Ala
XM_017021588.1:c.1594C>G	XP_016877077.1:p.Pro532Ala
NM_001164749.2:c.1900C>G MANE Select	NP_001158221.1:p.Pro634Ala
NM_001165893.2:c.1810C>G	NP_001159365.1:p.Pro604Ala
NM_022123.3:c.1804C>G	NP_071406.1:p.Pro602Ala
NM_173159.3:c.1861C>G	NP_775182.1:p.Pro621Ala
NM_001394988.1:c.1855C>G	NP_001381917.1:p.Pro619Ala
NM_001394989.1:c.1801C>G	NP_001381918.1:p.Pro601Ala