Canonical Allele Identifier: CA389413100

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269434A>C (hg19) ; chr14:g.33800228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800228A>C , CM000676.2:g.33800228A>C	GRCh38
NC_000014.8:g.34269434A>C , CM000676.1:g.34269434A>C	GRCh37
NC_000014.7:g.33339185A>C	NCBI36
NG_013036.1:g.865976A>C
NG_013036.2:g.865976A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1921A>C MANE Select	ENSP00000348460.4:p.Asn641His
ENST00000551634.6:c.1930A>C	ENSP00000448373.2:p.Asn644His
ENST00000680362.1:c.1821A>C
ENST00000681323.1:c.793+2647A>C
ENST00000346562.6:c.1825A>C	ENSP00000319610.5:p.Asn609His
ENST00000356141.8:c.1921A>C	ENSP00000348460.4:p.Asn641His
ENST00000357798.9:c.1882A>C	ENSP00000350446.5:p.Asn628His
ENST00000548645.5:c.1831A>C	ENSP00000448916.1:p.Asn611His
ENST00000551492.5:c.1936A>C	ENSP00000450392.1:p.Asn646His
ENST00000551634.5:c.1843A>C	ENSP00000448373.1:p.Asn615His
NM_001164749.1:c.1921A>C	NP_001158221.1:p.Asn641His
NM_001165893.1:c.1831A>C	NP_001159365.1:p.Asn611His
NM_022123.2:c.1825A>C	NP_071406.1:p.Asn609His
NM_173159.2:c.1882A>C	NP_775182.1:p.Asn628His
XM_005267991.2:c.1942A>C	XP_005268048.1:p.Asn648His
XM_005267992.2:c.1936A>C	XP_005268049.1:p.Asn646His
XM_005267993.2:c.1882A>C	XP_005268050.1:p.Asn628His
XM_011537067.1:c.1972A>C	XP_011535369.1:p.Asn658His
XM_011537068.1:c.1963A>C	XP_011535370.1:p.Asn655His
XM_011537069.1:c.1933A>C	XP_011535371.1:p.Asn645His
XM_011537070.1:c.1876A>C	XP_011535372.1:p.Asn626His
XM_011537071.1:c.1843A>C	XP_011535373.1:p.Asn615His
XM_011537072.1:c.1822A>C	XP_011535374.1:p.Asn608His
XM_011537073.1:c.1615A>C	XP_011535375.1:p.Asn539His
XM_011537074.1:c.1615A>C	XP_011535376.1:p.Asn539His
XM_005267991.3:c.2029A>C	XP_005268048.2:p.Asn677His
XM_005267992.3:c.2023A>C	XP_005268049.2:p.Asn675His
XM_011537067.2:c.1972A>C	XP_011535369.1:p.Asn658His
XM_011537069.2:c.2020A>C	XP_011535371.2:p.Asn674His
XM_011537070.2:c.1876A>C	XP_011535372.1:p.Asn626His
XM_011537071.2:c.1930A>C	XP_011535373.2:p.Asn644His
XM_011537072.2:c.1822A>C	XP_011535374.1:p.Asn608His
XM_017021582.1:c.2080A>C	XP_016877071.1:p.Asn694His
XM_017021583.1:c.2071A>C	XP_016877072.1:p.Asn691His
XM_017021584.1:c.1990A>C	XP_016877073.1:p.Asn664His
XM_017021585.1:c.1939A>C	XP_016877074.1:p.Asn647His
XM_017021586.1:c.1615A>C	XP_016877075.1:p.Asn539His
XM_017021587.1:c.1615A>C	XP_016877076.1:p.Asn539His
XM_017021588.1:c.1615A>C	XP_016877077.1:p.Asn539His
NM_001164749.2:c.1921A>C MANE Select	NP_001158221.1:p.Asn641His
NM_001165893.2:c.1831A>C	NP_001159365.1:p.Asn611His
NM_022123.3:c.1825A>C	NP_071406.1:p.Asn609His
NM_173159.3:c.1882A>C	NP_775182.1:p.Asn628His
NM_001394988.1:c.1876A>C	NP_001381917.1:p.Asn626His
NM_001394989.1:c.1822A>C	NP_001381918.1:p.Asn608His