Canonical Allele Identifier: CA389413195

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269454G>C (hg19) ; chr14:g.33800248G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800248G>C , CM000676.2:g.33800248G>C	GRCh38
NC_000014.8:g.34269454G>C , CM000676.1:g.34269454G>C	GRCh37
NC_000014.7:g.33339205G>C	NCBI36
NG_013036.1:g.865996G>C
NG_013036.2:g.865996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1941G>C MANE Select	ENSP00000348460.4:p.Lys647Asn
ENST00000551634.6:c.1950G>C	ENSP00000448373.2:p.Lys650Asn
ENST00000680362.1:c.1841G>C
ENST00000681323.1:c.793+2667G>C
ENST00000346562.6:c.1845G>C	ENSP00000319610.5:p.Lys615Asn
ENST00000356141.8:c.1941G>C	ENSP00000348460.4:p.Lys647Asn
ENST00000357798.9:c.1902G>C	ENSP00000350446.5:p.Lys634Asn
ENST00000548645.5:c.1851G>C	ENSP00000448916.1:p.Lys617Asn
ENST00000551492.5:c.1956G>C	ENSP00000450392.1:p.Lys652Asn
ENST00000551634.5:c.1863G>C	ENSP00000448373.1:p.Lys621Asn
NM_001164749.1:c.1941G>C	NP_001158221.1:p.Lys647Asn
NM_001165893.1:c.1851G>C	NP_001159365.1:p.Lys617Asn
NM_022123.2:c.1845G>C	NP_071406.1:p.Lys615Asn
NM_173159.2:c.1902G>C	NP_775182.1:p.Lys634Asn
XM_005267991.2:c.1962G>C	XP_005268048.1:p.Lys654Asn
XM_005267992.2:c.1956G>C	XP_005268049.1:p.Lys652Asn
XM_005267993.2:c.1902G>C	XP_005268050.1:p.Lys634Asn
XM_011537067.1:c.1992G>C	XP_011535369.1:p.Lys664Asn
XM_011537068.1:c.1983G>C	XP_011535370.1:p.Lys661Asn
XM_011537069.1:c.1953G>C	XP_011535371.1:p.Lys651Asn
XM_011537070.1:c.1896G>C	XP_011535372.1:p.Lys632Asn
XM_011537071.1:c.1863G>C	XP_011535373.1:p.Lys621Asn
XM_011537072.1:c.1842G>C	XP_011535374.1:p.Lys614Asn
XM_011537073.1:c.1635G>C	XP_011535375.1:p.Lys545Asn
XM_011537074.1:c.1635G>C	XP_011535376.1:p.Lys545Asn
XM_005267991.3:c.2049G>C	XP_005268048.2:p.Lys683Asn
XM_005267992.3:c.2043G>C	XP_005268049.2:p.Lys681Asn
XM_011537067.2:c.1992G>C	XP_011535369.1:p.Lys664Asn
XM_011537069.2:c.2040G>C	XP_011535371.2:p.Lys680Asn
XM_011537070.2:c.1896G>C	XP_011535372.1:p.Lys632Asn
XM_011537071.2:c.1950G>C	XP_011535373.2:p.Lys650Asn
XM_011537072.2:c.1842G>C	XP_011535374.1:p.Lys614Asn
XM_017021582.1:c.2100G>C	XP_016877071.1:p.Lys700Asn
XM_017021583.1:c.2091G>C	XP_016877072.1:p.Lys697Asn
XM_017021584.1:c.2010G>C	XP_016877073.1:p.Lys670Asn
XM_017021585.1:c.1959G>C	XP_016877074.1:p.Lys653Asn
XM_017021586.1:c.1635G>C	XP_016877075.1:p.Lys545Asn
XM_017021587.1:c.1635G>C	XP_016877076.1:p.Lys545Asn
XM_017021588.1:c.1635G>C	XP_016877077.1:p.Lys545Asn
NM_001164749.2:c.1941G>C MANE Select	NP_001158221.1:p.Lys647Asn
NM_001165893.2:c.1851G>C	NP_001159365.1:p.Lys617Asn
NM_022123.3:c.1845G>C	NP_071406.1:p.Lys615Asn
NM_173159.3:c.1902G>C	NP_775182.1:p.Lys634Asn
NM_001394988.1:c.1896G>C	NP_001381917.1:p.Lys632Asn
NM_001394989.1:c.1842G>C	NP_001381918.1:p.Lys614Asn