Canonical Allele Identifier: CA389414131

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800480-G-T
• MyVariant Identifiers: chr14:g.34269686G>T (hg19) ; chr14:g.33800480G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800480G>T , CM000676.2:g.33800480G>T	GRCh38
NC_000014.8:g.34269686G>T , CM000676.1:g.34269686G>T	GRCh37
NC_000014.7:g.33339437G>T	NCBI36
NG_013036.1:g.866228G>T
NG_013036.2:g.866228G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2173G>T MANE Select	ENSP00000348460.4:p.Ala725Ser
ENST00000551634.6:c.2182G>T	ENSP00000448373.2:p.Ala728Ser
ENST00000680362.1:c.2073G>T
ENST00000681323.1:c.793+2899G>T
ENST00000346562.6:c.2077G>T	ENSP00000319610.5:p.Ala693Ser
ENST00000356141.8:c.2173G>T	ENSP00000348460.4:p.Ala725Ser
ENST00000357798.9:c.2134G>T	ENSP00000350446.5:p.Ala712Ser
ENST00000548645.5:c.2083G>T	ENSP00000448916.1:p.Ala695Ser
ENST00000551492.5:c.2188G>T	ENSP00000450392.1:p.Ala730Ser
ENST00000551634.5:c.2095G>T	ENSP00000448373.1:p.Ala699Ser
NM_001164749.1:c.2173G>T	NP_001158221.1:p.Ala725Ser
NM_001165893.1:c.2083G>T	NP_001159365.1:p.Ala695Ser
NM_022123.2:c.2077G>T	NP_071406.1:p.Ala693Ser
NM_173159.2:c.2134G>T	NP_775182.1:p.Ala712Ser
XM_005267991.2:c.2194G>T	XP_005268048.1:p.Ala732Ser
XM_005267992.2:c.2188G>T	XP_005268049.1:p.Ala730Ser
XM_005267993.2:c.2134G>T	XP_005268050.1:p.Ala712Ser
XM_011537067.1:c.2224G>T	XP_011535369.1:p.Ala742Ser
XM_011537068.1:c.2215G>T	XP_011535370.1:p.Ala739Ser
XM_011537069.1:c.2185G>T	XP_011535371.1:p.Ala729Ser
XM_011537070.1:c.2128G>T	XP_011535372.1:p.Ala710Ser
XM_011537071.1:c.2095G>T	XP_011535373.1:p.Ala699Ser
XM_011537072.1:c.2074G>T	XP_011535374.1:p.Ala692Ser
XM_011537073.1:c.1867G>T	XP_011535375.1:p.Ala623Ser
XM_011537074.1:c.1867G>T	XP_011535376.1:p.Ala623Ser
XM_005267991.3:c.2281G>T	XP_005268048.2:p.Ala761Ser
XM_005267992.3:c.2275G>T	XP_005268049.2:p.Ala759Ser
XM_011537067.2:c.2224G>T	XP_011535369.1:p.Ala742Ser
XM_011537069.2:c.2272G>T	XP_011535371.2:p.Ala758Ser
XM_011537070.2:c.2128G>T	XP_011535372.1:p.Ala710Ser
XM_011537071.2:c.2182G>T	XP_011535373.2:p.Ala728Ser
XM_011537072.2:c.2074G>T	XP_011535374.1:p.Ala692Ser
XM_017021582.1:c.2332G>T	XP_016877071.1:p.Ala778Ser
XM_017021583.1:c.2323G>T	XP_016877072.1:p.Ala775Ser
XM_017021584.1:c.2242G>T	XP_016877073.1:p.Ala748Ser
XM_017021585.1:c.2191G>T	XP_016877074.1:p.Ala731Ser
XM_017021586.1:c.1867G>T	XP_016877075.1:p.Ala623Ser
XM_017021587.1:c.1867G>T	XP_016877076.1:p.Ala623Ser
XM_017021588.1:c.1867G>T	XP_016877077.1:p.Ala623Ser
NM_001164749.2:c.2173G>T MANE Select	NP_001158221.1:p.Ala725Ser
NM_001165893.2:c.2083G>T	NP_001159365.1:p.Ala695Ser
NM_022123.3:c.2077G>T	NP_071406.1:p.Ala693Ser
NM_173159.3:c.2134G>T	NP_775182.1:p.Ala712Ser
NM_001394988.1:c.2128G>T	NP_001381917.1:p.Ala710Ser
NM_001394989.1:c.2074G>T	NP_001381918.1:p.Ala692Ser