Canonical Allele Identifier: CA389414354

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800588-G-T
• MyVariant Identifiers: chr14:g.34269794G>T (hg19) ; chr14:g.33800588G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800588G>T , CM000676.2:g.33800588G>T	GRCh38
NC_000014.8:g.34269794G>T , CM000676.1:g.34269794G>T	GRCh37
NC_000014.7:g.33339545G>T	NCBI36
NG_013036.1:g.866336G>T
NG_013036.2:g.866336G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2281G>T MANE Select	ENSP00000348460.4:p.Gly761Trp
ENST00000551634.6:c.2290G>T	ENSP00000448373.2:p.Gly764Trp
ENST00000680362.1:c.2181G>T
ENST00000681323.1:c.793+3007G>T
ENST00000346562.6:c.2185G>T	ENSP00000319610.5:p.Gly729Trp
ENST00000356141.8:c.2281G>T	ENSP00000348460.4:p.Gly761Trp
ENST00000357798.9:c.2242G>T	ENSP00000350446.5:p.Gly748Trp
ENST00000548645.5:c.2191G>T	ENSP00000448916.1:p.Gly731Trp
ENST00000551492.5:c.2296G>T	ENSP00000450392.1:p.Gly766Trp
ENST00000551634.5:c.2203G>T	ENSP00000448373.1:p.Gly735Trp
NM_001164749.1:c.2281G>T	NP_001158221.1:p.Gly761Trp
NM_001165893.1:c.2191G>T	NP_001159365.1:p.Gly731Trp
NM_022123.2:c.2185G>T	NP_071406.1:p.Gly729Trp
NM_173159.2:c.2242G>T	NP_775182.1:p.Gly748Trp
XM_005267991.2:c.2302G>T	XP_005268048.1:p.Gly768Trp
XM_005267992.2:c.2296G>T	XP_005268049.1:p.Gly766Trp
XM_005267993.2:c.2242G>T	XP_005268050.1:p.Gly748Trp
XM_011537067.1:c.2332G>T	XP_011535369.1:p.Gly778Trp
XM_011537068.1:c.2323G>T	XP_011535370.1:p.Gly775Trp
XM_011537069.1:c.2293G>T	XP_011535371.1:p.Gly765Trp
XM_011537070.1:c.2236G>T	XP_011535372.1:p.Gly746Trp
XM_011537071.1:c.2203G>T	XP_011535373.1:p.Gly735Trp
XM_011537072.1:c.2182G>T	XP_011535374.1:p.Gly728Trp
XM_011537073.1:c.1975G>T	XP_011535375.1:p.Gly659Trp
XM_011537074.1:c.1975G>T	XP_011535376.1:p.Gly659Trp
XM_005267991.3:c.2389G>T	XP_005268048.2:p.Gly797Trp
XM_005267992.3:c.2383G>T	XP_005268049.2:p.Gly795Trp
XM_011537067.2:c.2332G>T	XP_011535369.1:p.Gly778Trp
XM_011537069.2:c.2380G>T	XP_011535371.2:p.Gly794Trp
XM_011537070.2:c.2236G>T	XP_011535372.1:p.Gly746Trp
XM_011537071.2:c.2290G>T	XP_011535373.2:p.Gly764Trp
XM_011537072.2:c.2182G>T	XP_011535374.1:p.Gly728Trp
XM_017021582.1:c.2440G>T	XP_016877071.1:p.Gly814Trp
XM_017021583.1:c.2431G>T	XP_016877072.1:p.Gly811Trp
XM_017021584.1:c.2350G>T	XP_016877073.1:p.Gly784Trp
XM_017021585.1:c.2299G>T	XP_016877074.1:p.Gly767Trp
XM_017021586.1:c.1975G>T	XP_016877075.1:p.Gly659Trp
XM_017021587.1:c.1975G>T	XP_016877076.1:p.Gly659Trp
XM_017021588.1:c.1975G>T	XP_016877077.1:p.Gly659Trp
NM_001164749.2:c.2281G>T MANE Select	NP_001158221.1:p.Gly761Trp
NM_001165893.2:c.2191G>T	NP_001159365.1:p.Gly731Trp
NM_022123.3:c.2185G>T	NP_071406.1:p.Gly729Trp
NM_173159.3:c.2242G>T	NP_775182.1:p.Gly748Trp
NM_001394988.1:c.2236G>T	NP_001381917.1:p.Gly746Trp
NM_001394989.1:c.2182G>T	NP_001381918.1:p.Gly728Trp