Canonical Allele Identifier: CA389412656

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800131-G-T
• MyVariant Identifiers: chr14:g.34269337G>T (hg19) ; chr14:g.33800131G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800131G>T , CM000676.2:g.33800131G>T	GRCh38
NC_000014.8:g.34269337G>T , CM000676.1:g.34269337G>T	GRCh37
NC_000014.7:g.33339088G>T	NCBI36
NG_013036.1:g.865879G>T
NG_013036.2:g.865879G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1824G>T MANE Select	ENSP00000348460.4:p.Lys608Asn
ENST00000551634.6:c.1833G>T	ENSP00000448373.2:p.Lys611Asn
ENST00000680362.1:c.1724G>T
ENST00000681323.1:c.793+2550G>T
ENST00000346562.6:c.1728G>T	ENSP00000319610.5:p.Lys576Asn
ENST00000356141.8:c.1824G>T	ENSP00000348460.4:p.Lys608Asn
ENST00000357798.9:c.1785G>T	ENSP00000350446.5:p.Lys595Asn
ENST00000548645.5:c.1734G>T	ENSP00000448916.1:p.Lys578Asn
ENST00000551492.5:c.1839G>T	ENSP00000450392.1:p.Lys613Asn
ENST00000551634.5:c.1746G>T	ENSP00000448373.1:p.Lys582Asn
NM_001164749.1:c.1824G>T	NP_001158221.1:p.Lys608Asn
NM_001165893.1:c.1734G>T	NP_001159365.1:p.Lys578Asn
NM_022123.2:c.1728G>T	NP_071406.1:p.Lys576Asn
NM_173159.2:c.1785G>T	NP_775182.1:p.Lys595Asn
XM_005267991.2:c.1845G>T	XP_005268048.1:p.Lys615Asn
XM_005267992.2:c.1839G>T	XP_005268049.1:p.Lys613Asn
XM_005267993.2:c.1785G>T	XP_005268050.1:p.Lys595Asn
XM_011537067.1:c.1875G>T	XP_011535369.1:p.Lys625Asn
XM_011537068.1:c.1866G>T	XP_011535370.1:p.Lys622Asn
XM_011537069.1:c.1836G>T	XP_011535371.1:p.Lys612Asn
XM_011537070.1:c.1779G>T	XP_011535372.1:p.Lys593Asn
XM_011537071.1:c.1746G>T	XP_011535373.1:p.Lys582Asn
XM_011537072.1:c.1725G>T	XP_011535374.1:p.Lys575Asn
XM_011537073.1:c.1518G>T	XP_011535375.1:p.Lys506Asn
XM_011537074.1:c.1518G>T	XP_011535376.1:p.Lys506Asn
XM_005267991.3:c.1932G>T	XP_005268048.2:p.Lys644Asn
XM_005267992.3:c.1926G>T	XP_005268049.2:p.Lys642Asn
XM_011537067.2:c.1875G>T	XP_011535369.1:p.Lys625Asn
XM_011537069.2:c.1923G>T	XP_011535371.2:p.Lys641Asn
XM_011537070.2:c.1779G>T	XP_011535372.1:p.Lys593Asn
XM_011537071.2:c.1833G>T	XP_011535373.2:p.Lys611Asn
XM_011537072.2:c.1725G>T	XP_011535374.1:p.Lys575Asn
XM_017021582.1:c.1983G>T	XP_016877071.1:p.Lys661Asn
XM_017021583.1:c.1974G>T	XP_016877072.1:p.Lys658Asn
XM_017021584.1:c.1893G>T	XP_016877073.1:p.Lys631Asn
XM_017021585.1:c.1842G>T	XP_016877074.1:p.Lys614Asn
XM_017021586.1:c.1518G>T	XP_016877075.1:p.Lys506Asn
XM_017021587.1:c.1518G>T	XP_016877076.1:p.Lys506Asn
XM_017021588.1:c.1518G>T	XP_016877077.1:p.Lys506Asn
NM_001164749.2:c.1824G>T MANE Select	NP_001158221.1:p.Lys608Asn
NM_001165893.2:c.1734G>T	NP_001159365.1:p.Lys578Asn
NM_022123.3:c.1728G>T	NP_071406.1:p.Lys576Asn
NM_173159.3:c.1785G>T	NP_775182.1:p.Lys595Asn
NM_001394988.1:c.1779G>T	NP_001381917.1:p.Lys593Asn
NM_001394989.1:c.1725G>T	NP_001381918.1:p.Lys575Asn