Canonical Allele Identifier: CA486093301

Gene: NPAS3

Linked Data

• dbSNP Id: rs1231098839
• gnomAD v3: 14-33800518-G-C
• gnomAD v4: 14-33800518-G-C
• MyVariant Identifiers: chr14:g.34269724G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800518G>C , CM000676.2:g.33800518G>C	GRCh38
NC_000014.8:g.34269724G>C , CM000676.1:g.34269724G>C	GRCh37
NC_000014.7:g.33339475G>C	NCBI36
NG_013036.1:g.866266G>C
NG_013036.2:g.866266G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2211G>C MANE Select	ENSP00000348460.4:p.Ala737=
ENST00000551634.6:c.2220G>C	ENSP00000448373.2:p.Ala740=
ENST00000680362.1:c.2111G>C
ENST00000681323.1:c.793+2937G>C
ENST00000346562.6:c.2115G>C	ENSP00000319610.5:p.Ala705=
ENST00000356141.8:c.2211G>C	ENSP00000348460.4:p.Ala737=
ENST00000357798.9:c.2172G>C	ENSP00000350446.5:p.Ala724=
ENST00000548645.5:c.2121G>C	ENSP00000448916.1:p.Ala707=
ENST00000551492.5:c.2226G>C	ENSP00000450392.1:p.Ala742=
ENST00000551634.5:c.2133G>C	ENSP00000448373.1:p.Ala711=
NM_001164749.1:c.2211G>C	NP_001158221.1:p.Ala737=
NM_001165893.1:c.2121G>C	NP_001159365.1:p.Ala707=
NM_022123.2:c.2115G>C	NP_071406.1:p.Ala705=
NM_173159.2:c.2172G>C	NP_775182.1:p.Ala724=
XM_005267991.2:c.2232G>C	XP_005268048.1:p.Ala744=
XM_005267992.2:c.2226G>C	XP_005268049.1:p.Ala742=
XM_005267993.2:c.2172G>C	XP_005268050.1:p.Ala724=
XM_011537067.1:c.2262G>C	XP_011535369.1:p.Ala754=
XM_011537068.1:c.2253G>C	XP_011535370.1:p.Ala751=
XM_011537069.1:c.2223G>C	XP_011535371.1:p.Ala741=
XM_011537070.1:c.2166G>C	XP_011535372.1:p.Ala722=
XM_011537071.1:c.2133G>C	XP_011535373.1:p.Ala711=
XM_011537072.1:c.2112G>C	XP_011535374.1:p.Ala704=
XM_011537073.1:c.1905G>C	XP_011535375.1:p.Ala635=
XM_011537074.1:c.1905G>C	XP_011535376.1:p.Ala635=
XM_005267991.3:c.2319G>C	XP_005268048.2:p.Ala773=
XM_005267992.3:c.2313G>C	XP_005268049.2:p.Ala771=
XM_011537067.2:c.2262G>C	XP_011535369.1:p.Ala754=
XM_011537069.2:c.2310G>C	XP_011535371.2:p.Ala770=
XM_011537070.2:c.2166G>C	XP_011535372.1:p.Ala722=
XM_011537071.2:c.2220G>C	XP_011535373.2:p.Ala740=
XM_011537072.2:c.2112G>C	XP_011535374.1:p.Ala704=
XM_017021582.1:c.2370G>C	XP_016877071.1:p.Ala790=
XM_017021583.1:c.2361G>C	XP_016877072.1:p.Ala787=
XM_017021584.1:c.2280G>C	XP_016877073.1:p.Ala760=
XM_017021585.1:c.2229G>C	XP_016877074.1:p.Ala743=
XM_017021586.1:c.1905G>C	XP_016877075.1:p.Ala635=
XM_017021587.1:c.1905G>C	XP_016877076.1:p.Ala635=
XM_017021588.1:c.1905G>C	XP_016877077.1:p.Ala635=
NM_001164749.2:c.2211G>C MANE Select	NP_001158221.1:p.Ala737=
NM_001165893.2:c.2121G>C	NP_001159365.1:p.Ala707=
NM_022123.3:c.2115G>C	NP_071406.1:p.Ala705=
NM_173159.3:c.2172G>C	NP_775182.1:p.Ala724=
NM_001394988.1:c.2166G>C	NP_001381917.1:p.Ala722=
NM_001394989.1:c.2112G>C	NP_001381918.1:p.Ala704=