Canonical Allele Identifier: CA389412308

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800078-G-C
• MyVariant Identifiers: chr14:g.34269284G>C (hg19) ; chr14:g.33800078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800078G>C , CM000676.2:g.33800078G>C	GRCh38
NC_000014.8:g.34269284G>C , CM000676.1:g.34269284G>C	GRCh37
NC_000014.7:g.33339035G>C	NCBI36
NG_013036.1:g.865826G>C
NG_013036.2:g.865826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1771G>C MANE Select	ENSP00000348460.4:p.Ala591Pro
ENST00000551634.6:c.1780G>C	ENSP00000448373.2:p.Ala594Pro
ENST00000680362.1:c.1671G>C
ENST00000681323.1:c.793+2497G>C
ENST00000346562.6:c.1675G>C	ENSP00000319610.5:p.Ala559Pro
ENST00000356141.8:c.1771G>C	ENSP00000348460.4:p.Ala591Pro
ENST00000357798.9:c.1732G>C	ENSP00000350446.5:p.Ala578Pro
ENST00000548645.5:c.1681G>C	ENSP00000448916.1:p.Ala561Pro
ENST00000551492.5:c.1786G>C	ENSP00000450392.1:p.Ala596Pro
ENST00000551634.5:c.1693G>C	ENSP00000448373.1:p.Ala565Pro
NM_001164749.1:c.1771G>C	NP_001158221.1:p.Ala591Pro
NM_001165893.1:c.1681G>C	NP_001159365.1:p.Ala561Pro
NM_022123.2:c.1675G>C	NP_071406.1:p.Ala559Pro
NM_173159.2:c.1732G>C	NP_775182.1:p.Ala578Pro
XM_005267991.2:c.1792G>C	XP_005268048.1:p.Ala598Pro
XM_005267992.2:c.1786G>C	XP_005268049.1:p.Ala596Pro
XM_005267993.2:c.1732G>C	XP_005268050.1:p.Ala578Pro
XM_011537067.1:c.1822G>C	XP_011535369.1:p.Ala608Pro
XM_011537068.1:c.1813G>C	XP_011535370.1:p.Ala605Pro
XM_011537069.1:c.1783G>C	XP_011535371.1:p.Ala595Pro
XM_011537070.1:c.1726G>C	XP_011535372.1:p.Ala576Pro
XM_011537071.1:c.1693G>C	XP_011535373.1:p.Ala565Pro
XM_011537072.1:c.1672G>C	XP_011535374.1:p.Ala558Pro
XM_011537073.1:c.1465G>C	XP_011535375.1:p.Ala489Pro
XM_011537074.1:c.1465G>C	XP_011535376.1:p.Ala489Pro
XM_005267991.3:c.1879G>C	XP_005268048.2:p.Ala627Pro
XM_005267992.3:c.1873G>C	XP_005268049.2:p.Ala625Pro
XM_011537067.2:c.1822G>C	XP_011535369.1:p.Ala608Pro
XM_011537069.2:c.1870G>C	XP_011535371.2:p.Ala624Pro
XM_011537070.2:c.1726G>C	XP_011535372.1:p.Ala576Pro
XM_011537071.2:c.1780G>C	XP_011535373.2:p.Ala594Pro
XM_011537072.2:c.1672G>C	XP_011535374.1:p.Ala558Pro
XM_017021582.1:c.1930G>C	XP_016877071.1:p.Ala644Pro
XM_017021583.1:c.1921G>C	XP_016877072.1:p.Ala641Pro
XM_017021584.1:c.1840G>C	XP_016877073.1:p.Ala614Pro
XM_017021585.1:c.1789G>C	XP_016877074.1:p.Ala597Pro
XM_017021586.1:c.1465G>C	XP_016877075.1:p.Ala489Pro
XM_017021587.1:c.1465G>C	XP_016877076.1:p.Ala489Pro
XM_017021588.1:c.1465G>C	XP_016877077.1:p.Ala489Pro
NM_001164749.2:c.1771G>C MANE Select	NP_001158221.1:p.Ala591Pro
NM_001165893.2:c.1681G>C	NP_001159365.1:p.Ala561Pro
NM_022123.3:c.1675G>C	NP_071406.1:p.Ala559Pro
NM_173159.3:c.1732G>C	NP_775182.1:p.Ala578Pro
NM_001394988.1:c.1726G>C	NP_001381917.1:p.Ala576Pro
NM_001394989.1:c.1672G>C	NP_001381918.1:p.Ala558Pro