Canonical Allele Identifier: CA389414044

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800441-C-T
• MyVariant Identifiers: chr14:g.34269647C>T (hg19) ; chr14:g.33800441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800441C>T , CM000676.2:g.33800441C>T	GRCh38
NC_000014.8:g.34269647C>T , CM000676.1:g.34269647C>T	GRCh37
NC_000014.7:g.33339398C>T	NCBI36
NG_013036.1:g.866189C>T
NG_013036.2:g.866189C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2134C>T MANE Select	ENSP00000348460.4:p.Pro712Ser
ENST00000551634.6:c.2143C>T	ENSP00000448373.2:p.Pro715Ser
ENST00000680362.1:c.2034C>T
ENST00000681323.1:c.793+2860C>T
ENST00000346562.6:c.2038C>T	ENSP00000319610.5:p.Pro680Ser
ENST00000356141.8:c.2134C>T	ENSP00000348460.4:p.Pro712Ser
ENST00000357798.9:c.2095C>T	ENSP00000350446.5:p.Pro699Ser
ENST00000548645.5:c.2044C>T	ENSP00000448916.1:p.Pro682Ser
ENST00000551492.5:c.2149C>T	ENSP00000450392.1:p.Pro717Ser
ENST00000551634.5:c.2056C>T	ENSP00000448373.1:p.Pro686Ser
NM_001164749.1:c.2134C>T	NP_001158221.1:p.Pro712Ser
NM_001165893.1:c.2044C>T	NP_001159365.1:p.Pro682Ser
NM_022123.2:c.2038C>T	NP_071406.1:p.Pro680Ser
NM_173159.2:c.2095C>T	NP_775182.1:p.Pro699Ser
XM_005267991.2:c.2155C>T	XP_005268048.1:p.Pro719Ser
XM_005267992.2:c.2149C>T	XP_005268049.1:p.Pro717Ser
XM_005267993.2:c.2095C>T	XP_005268050.1:p.Pro699Ser
XM_011537067.1:c.2185C>T	XP_011535369.1:p.Pro729Ser
XM_011537068.1:c.2176C>T	XP_011535370.1:p.Pro726Ser
XM_011537069.1:c.2146C>T	XP_011535371.1:p.Pro716Ser
XM_011537070.1:c.2089C>T	XP_011535372.1:p.Pro697Ser
XM_011537071.1:c.2056C>T	XP_011535373.1:p.Pro686Ser
XM_011537072.1:c.2035C>T	XP_011535374.1:p.Pro679Ser
XM_011537073.1:c.1828C>T	XP_011535375.1:p.Pro610Ser
XM_011537074.1:c.1828C>T	XP_011535376.1:p.Pro610Ser
XM_005267991.3:c.2242C>T	XP_005268048.2:p.Pro748Ser
XM_005267992.3:c.2236C>T	XP_005268049.2:p.Pro746Ser
XM_011537067.2:c.2185C>T	XP_011535369.1:p.Pro729Ser
XM_011537069.2:c.2233C>T	XP_011535371.2:p.Pro745Ser
XM_011537070.2:c.2089C>T	XP_011535372.1:p.Pro697Ser
XM_011537071.2:c.2143C>T	XP_011535373.2:p.Pro715Ser
XM_011537072.2:c.2035C>T	XP_011535374.1:p.Pro679Ser
XM_017021582.1:c.2293C>T	XP_016877071.1:p.Pro765Ser
XM_017021583.1:c.2284C>T	XP_016877072.1:p.Pro762Ser
XM_017021584.1:c.2203C>T	XP_016877073.1:p.Pro735Ser
XM_017021585.1:c.2152C>T	XP_016877074.1:p.Pro718Ser
XM_017021586.1:c.1828C>T	XP_016877075.1:p.Pro610Ser
XM_017021587.1:c.1828C>T	XP_016877076.1:p.Pro610Ser
XM_017021588.1:c.1828C>T	XP_016877077.1:p.Pro610Ser
NM_001164749.2:c.2134C>T MANE Select	NP_001158221.1:p.Pro712Ser
NM_001165893.2:c.2044C>T	NP_001159365.1:p.Pro682Ser
NM_022123.3:c.2038C>T	NP_071406.1:p.Pro680Ser
NM_173159.3:c.2095C>T	NP_775182.1:p.Pro699Ser
NM_001394988.1:c.2089C>T	NP_001381917.1:p.Pro697Ser
NM_001394989.1:c.2035C>T	NP_001381918.1:p.Pro679Ser