Canonical Allele Identifier: CA389414361

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063675600
• gnomAD v3: 14-33800592-A-C
• gnomAD v4: 14-33800592-A-C
• MyVariant Identifiers: chr14:g.34269798A>C (hg19) ; chr14:g.33800592A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800592A>C , CM000676.2:g.33800592A>C	GRCh38
NC_000014.8:g.34269798A>C , CM000676.1:g.34269798A>C	GRCh37
NC_000014.7:g.33339549A>C	NCBI36
NG_013036.1:g.866340A>C
NG_013036.2:g.866340A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2285A>C MANE Select	ENSP00000348460.4:p.Asn762Thr
ENST00000551634.6:c.2294A>C	ENSP00000448373.2:p.Asn765Thr
ENST00000680362.1:c.2185A>C
ENST00000681323.1:c.793+3011A>C
ENST00000346562.6:c.2189A>C	ENSP00000319610.5:p.Asn730Thr
ENST00000356141.8:c.2285A>C	ENSP00000348460.4:p.Asn762Thr
ENST00000357798.9:c.2246A>C	ENSP00000350446.5:p.Asn749Thr
ENST00000548645.5:c.2195A>C	ENSP00000448916.1:p.Asn732Thr
ENST00000551492.5:c.2300A>C	ENSP00000450392.1:p.Asn767Thr
ENST00000551634.5:c.2207A>C	ENSP00000448373.1:p.Asn736Thr
NM_001164749.1:c.2285A>C	NP_001158221.1:p.Asn762Thr
NM_001165893.1:c.2195A>C	NP_001159365.1:p.Asn732Thr
NM_022123.2:c.2189A>C	NP_071406.1:p.Asn730Thr
NM_173159.2:c.2246A>C	NP_775182.1:p.Asn749Thr
XM_005267991.2:c.2306A>C	XP_005268048.1:p.Asn769Thr
XM_005267992.2:c.2300A>C	XP_005268049.1:p.Asn767Thr
XM_005267993.2:c.2246A>C	XP_005268050.1:p.Asn749Thr
XM_011537067.1:c.2336A>C	XP_011535369.1:p.Asn779Thr
XM_011537068.1:c.2327A>C	XP_011535370.1:p.Asn776Thr
XM_011537069.1:c.2297A>C	XP_011535371.1:p.Asn766Thr
XM_011537070.1:c.2240A>C	XP_011535372.1:p.Asn747Thr
XM_011537071.1:c.2207A>C	XP_011535373.1:p.Asn736Thr
XM_011537072.1:c.2186A>C	XP_011535374.1:p.Asn729Thr
XM_011537073.1:c.1979A>C	XP_011535375.1:p.Asn660Thr
XM_011537074.1:c.1979A>C	XP_011535376.1:p.Asn660Thr
XM_005267991.3:c.2393A>C	XP_005268048.2:p.Asn798Thr
XM_005267992.3:c.2387A>C	XP_005268049.2:p.Asn796Thr
XM_011537067.2:c.2336A>C	XP_011535369.1:p.Asn779Thr
XM_011537069.2:c.2384A>C	XP_011535371.2:p.Asn795Thr
XM_011537070.2:c.2240A>C	XP_011535372.1:p.Asn747Thr
XM_011537071.2:c.2294A>C	XP_011535373.2:p.Asn765Thr
XM_011537072.2:c.2186A>C	XP_011535374.1:p.Asn729Thr
XM_017021582.1:c.2444A>C	XP_016877071.1:p.Asn815Thr
XM_017021583.1:c.2435A>C	XP_016877072.1:p.Asn812Thr
XM_017021584.1:c.2354A>C	XP_016877073.1:p.Asn785Thr
XM_017021585.1:c.2303A>C	XP_016877074.1:p.Asn768Thr
XM_017021586.1:c.1979A>C	XP_016877075.1:p.Asn660Thr
XM_017021587.1:c.1979A>C	XP_016877076.1:p.Asn660Thr
XM_017021588.1:c.1979A>C	XP_016877077.1:p.Asn660Thr
NM_001164749.2:c.2285A>C MANE Select	NP_001158221.1:p.Asn762Thr
NM_001165893.2:c.2195A>C	NP_001159365.1:p.Asn732Thr
NM_022123.3:c.2189A>C	NP_071406.1:p.Asn730Thr
NM_173159.3:c.2246A>C	NP_775182.1:p.Asn749Thr
NM_001394988.1:c.2240A>C	NP_001381917.1:p.Asn747Thr
NM_001394989.1:c.2186A>C	NP_001381918.1:p.Asn729Thr