Canonical Allele Identifier: CA389412224

Gene: NPAS3

Linked Data

• dbSNP Id: rs1171264248
• gnomAD v2: 14-34269272-G-A
• gnomAD v4: 14-33800066-G-A
• MyVariant Identifiers: chr14:g.34269272G>A (hg19) ; chr14:g.33800066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800066G>A , CM000676.2:g.33800066G>A	GRCh38
NC_000014.8:g.34269272G>A , CM000676.1:g.34269272G>A	GRCh37
NC_000014.7:g.33339023G>A	NCBI36
NG_013036.1:g.865814G>A
NG_013036.2:g.865814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1759G>A MANE Select	ENSP00000348460.4:p.Gly587Ser
ENST00000551634.6:c.1768G>A	ENSP00000448373.2:p.Gly590Ser
ENST00000680362.1:c.1659G>A
ENST00000681323.1:c.793+2485G>A
ENST00000346562.6:c.1663G>A	ENSP00000319610.5:p.Gly555Ser
ENST00000356141.8:c.1759G>A	ENSP00000348460.4:p.Gly587Ser
ENST00000357798.9:c.1720G>A	ENSP00000350446.5:p.Gly574Ser
ENST00000548645.5:c.1669G>A	ENSP00000448916.1:p.Gly557Ser
ENST00000551492.5:c.1774G>A	ENSP00000450392.1:p.Gly592Ser
ENST00000551634.5:c.1681G>A	ENSP00000448373.1:p.Gly561Ser
NM_001164749.1:c.1759G>A	NP_001158221.1:p.Gly587Ser
NM_001165893.1:c.1669G>A	NP_001159365.1:p.Gly557Ser
NM_022123.2:c.1663G>A	NP_071406.1:p.Gly555Ser
NM_173159.2:c.1720G>A	NP_775182.1:p.Gly574Ser
XM_005267991.2:c.1780G>A	XP_005268048.1:p.Gly594Ser
XM_005267992.2:c.1774G>A	XP_005268049.1:p.Gly592Ser
XM_005267993.2:c.1720G>A	XP_005268050.1:p.Gly574Ser
XM_011537067.1:c.1810G>A	XP_011535369.1:p.Gly604Ser
XM_011537068.1:c.1801G>A	XP_011535370.1:p.Gly601Ser
XM_011537069.1:c.1771G>A	XP_011535371.1:p.Gly591Ser
XM_011537070.1:c.1714G>A	XP_011535372.1:p.Gly572Ser
XM_011537071.1:c.1681G>A	XP_011535373.1:p.Gly561Ser
XM_011537072.1:c.1660G>A	XP_011535374.1:p.Gly554Ser
XM_011537073.1:c.1453G>A	XP_011535375.1:p.Gly485Ser
XM_011537074.1:c.1453G>A	XP_011535376.1:p.Gly485Ser
XM_005267991.3:c.1867G>A	XP_005268048.2:p.Gly623Ser
XM_005267992.3:c.1861G>A	XP_005268049.2:p.Gly621Ser
XM_011537067.2:c.1810G>A	XP_011535369.1:p.Gly604Ser
XM_011537069.2:c.1858G>A	XP_011535371.2:p.Gly620Ser
XM_011537070.2:c.1714G>A	XP_011535372.1:p.Gly572Ser
XM_011537071.2:c.1768G>A	XP_011535373.2:p.Gly590Ser
XM_011537072.2:c.1660G>A	XP_011535374.1:p.Gly554Ser
XM_017021582.1:c.1918G>A	XP_016877071.1:p.Gly640Ser
XM_017021583.1:c.1909G>A	XP_016877072.1:p.Gly637Ser
XM_017021584.1:c.1828G>A	XP_016877073.1:p.Gly610Ser
XM_017021585.1:c.1777G>A	XP_016877074.1:p.Gly593Ser
XM_017021586.1:c.1453G>A	XP_016877075.1:p.Gly485Ser
XM_017021587.1:c.1453G>A	XP_016877076.1:p.Gly485Ser
XM_017021588.1:c.1453G>A	XP_016877077.1:p.Gly485Ser
NM_001164749.2:c.1759G>A MANE Select	NP_001158221.1:p.Gly587Ser
NM_001165893.2:c.1669G>A	NP_001159365.1:p.Gly557Ser
NM_022123.3:c.1663G>A	NP_071406.1:p.Gly555Ser
NM_173159.3:c.1720G>A	NP_775182.1:p.Gly574Ser
NM_001394988.1:c.1714G>A	NP_001381917.1:p.Gly572Ser
NM_001394989.1:c.1660G>A	NP_001381918.1:p.Gly554Ser