Canonical Allele Identifier: CA389412959

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800189-G-T
• MyVariant Identifiers: chr14:g.34269395G>T (hg19) ; chr14:g.33800189G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800189G>T , CM000676.2:g.33800189G>T	GRCh38
NC_000014.8:g.34269395G>T , CM000676.1:g.34269395G>T	GRCh37
NC_000014.7:g.33339146G>T	NCBI36
NG_013036.1:g.865937G>T
NG_013036.2:g.865937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1882G>T MANE Select	ENSP00000348460.4:p.Ala628Ser
ENST00000551634.6:c.1891G>T	ENSP00000448373.2:p.Ala631Ser
ENST00000680362.1:c.1782G>T
ENST00000681323.1:c.793+2608G>T
ENST00000346562.6:c.1786G>T	ENSP00000319610.5:p.Ala596Ser
ENST00000356141.8:c.1882G>T	ENSP00000348460.4:p.Ala628Ser
ENST00000357798.9:c.1843G>T	ENSP00000350446.5:p.Ala615Ser
ENST00000548645.5:c.1792G>T	ENSP00000448916.1:p.Ala598Ser
ENST00000551492.5:c.1897G>T	ENSP00000450392.1:p.Ala633Ser
ENST00000551634.5:c.1804G>T	ENSP00000448373.1:p.Ala602Ser
NM_001164749.1:c.1882G>T	NP_001158221.1:p.Ala628Ser
NM_001165893.1:c.1792G>T	NP_001159365.1:p.Ala598Ser
NM_022123.2:c.1786G>T	NP_071406.1:p.Ala596Ser
NM_173159.2:c.1843G>T	NP_775182.1:p.Ala615Ser
XM_005267991.2:c.1903G>T	XP_005268048.1:p.Ala635Ser
XM_005267992.2:c.1897G>T	XP_005268049.1:p.Ala633Ser
XM_005267993.2:c.1843G>T	XP_005268050.1:p.Ala615Ser
XM_011537067.1:c.1933G>T	XP_011535369.1:p.Ala645Ser
XM_011537068.1:c.1924G>T	XP_011535370.1:p.Ala642Ser
XM_011537069.1:c.1894G>T	XP_011535371.1:p.Ala632Ser
XM_011537070.1:c.1837G>T	XP_011535372.1:p.Ala613Ser
XM_011537071.1:c.1804G>T	XP_011535373.1:p.Ala602Ser
XM_011537072.1:c.1783G>T	XP_011535374.1:p.Ala595Ser
XM_011537073.1:c.1576G>T	XP_011535375.1:p.Ala526Ser
XM_011537074.1:c.1576G>T	XP_011535376.1:p.Ala526Ser
XM_005267991.3:c.1990G>T	XP_005268048.2:p.Ala664Ser
XM_005267992.3:c.1984G>T	XP_005268049.2:p.Ala662Ser
XM_011537067.2:c.1933G>T	XP_011535369.1:p.Ala645Ser
XM_011537069.2:c.1981G>T	XP_011535371.2:p.Ala661Ser
XM_011537070.2:c.1837G>T	XP_011535372.1:p.Ala613Ser
XM_011537071.2:c.1891G>T	XP_011535373.2:p.Ala631Ser
XM_011537072.2:c.1783G>T	XP_011535374.1:p.Ala595Ser
XM_017021582.1:c.2041G>T	XP_016877071.1:p.Ala681Ser
XM_017021583.1:c.2032G>T	XP_016877072.1:p.Ala678Ser
XM_017021584.1:c.1951G>T	XP_016877073.1:p.Ala651Ser
XM_017021585.1:c.1900G>T	XP_016877074.1:p.Ala634Ser
XM_017021586.1:c.1576G>T	XP_016877075.1:p.Ala526Ser
XM_017021587.1:c.1576G>T	XP_016877076.1:p.Ala526Ser
XM_017021588.1:c.1576G>T	XP_016877077.1:p.Ala526Ser
NM_001164749.2:c.1882G>T MANE Select	NP_001158221.1:p.Ala628Ser
NM_001165893.2:c.1792G>T	NP_001159365.1:p.Ala598Ser
NM_022123.3:c.1786G>T	NP_071406.1:p.Ala596Ser
NM_173159.3:c.1843G>T	NP_775182.1:p.Ala615Ser
NM_001394988.1:c.1837G>T	NP_001381917.1:p.Ala613Ser
NM_001394989.1:c.1783G>T	NP_001381918.1:p.Ala595Ser