Canonical Allele Identifier: CA389414220

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800523-T-A
• MyVariant Identifiers: chr14:g.34269729T>A (hg19) ; chr14:g.33800523T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800523T>A , CM000676.2:g.33800523T>A	GRCh38
NC_000014.8:g.34269729T>A , CM000676.1:g.34269729T>A	GRCh37
NC_000014.7:g.33339480T>A	NCBI36
NG_013036.1:g.866271T>A
NG_013036.2:g.866271T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356141.9:c.2216T>A MANE Select	ENSP00000348460.4:p.Leu739Gln
ENST00000551634.6:c.2225T>A	ENSP00000448373.2:p.Leu742Gln
ENST00000680362.1:c.2116T>A
ENST00000681323.1:c.793+2942T>A
ENST00000346562.6:c.2120T>A	ENSP00000319610.5:p.Leu707Gln
ENST00000356141.8:c.2216T>A	ENSP00000348460.4:p.Leu739Gln
ENST00000357798.9:c.2177T>A	ENSP00000350446.5:p.Leu726Gln
ENST00000548645.5:c.2126T>A	ENSP00000448916.1:p.Leu709Gln
ENST00000551492.5:c.2231T>A	ENSP00000450392.1:p.Leu744Gln
ENST00000551634.5:c.2138T>A	ENSP00000448373.1:p.Leu713Gln
NM_001164749.1:c.2216T>A	NP_001158221.1:p.Leu739Gln
NM_001165893.1:c.2126T>A	NP_001159365.1:p.Leu709Gln
NM_022123.2:c.2120T>A	NP_071406.1:p.Leu707Gln
NM_173159.2:c.2177T>A	NP_775182.1:p.Leu726Gln
XM_005267991.2:c.2237T>A	XP_005268048.1:p.Leu746Gln
XM_005267992.2:c.2231T>A	XP_005268049.1:p.Leu744Gln
XM_005267993.2:c.2177T>A	XP_005268050.1:p.Leu726Gln
XM_011537067.1:c.2267T>A	XP_011535369.1:p.Leu756Gln
XM_011537068.1:c.2258T>A	XP_011535370.1:p.Leu753Gln
XM_011537069.1:c.2228T>A	XP_011535371.1:p.Leu743Gln
XM_011537070.1:c.2171T>A	XP_011535372.1:p.Leu724Gln
XM_011537071.1:c.2138T>A	XP_011535373.1:p.Leu713Gln
XM_011537072.1:c.2117T>A	XP_011535374.1:p.Leu706Gln
XM_011537073.1:c.1910T>A	XP_011535375.1:p.Leu637Gln
XM_011537074.1:c.1910T>A	XP_011535376.1:p.Leu637Gln
XM_005267991.3:c.2324T>A	XP_005268048.2:p.Leu775Gln
XM_005267992.3:c.2318T>A	XP_005268049.2:p.Leu773Gln
XM_011537067.2:c.2267T>A	XP_011535369.1:p.Leu756Gln
XM_011537069.2:c.2315T>A	XP_011535371.2:p.Leu772Gln
XM_011537070.2:c.2171T>A	XP_011535372.1:p.Leu724Gln
XM_011537071.2:c.2225T>A	XP_011535373.2:p.Leu742Gln
XM_011537072.2:c.2117T>A	XP_011535374.1:p.Leu706Gln
XM_017021582.1:c.2375T>A	XP_016877071.1:p.Leu792Gln
XM_017021583.1:c.2366T>A	XP_016877072.1:p.Leu789Gln
XM_017021584.1:c.2285T>A	XP_016877073.1:p.Leu762Gln
XM_017021585.1:c.2234T>A	XP_016877074.1:p.Leu745Gln
XM_017021586.1:c.1910T>A	XP_016877075.1:p.Leu637Gln
XM_017021587.1:c.1910T>A	XP_016877076.1:p.Leu637Gln
XM_017021588.1:c.1910T>A	XP_016877077.1:p.Leu637Gln
NM_001164749.2:c.2216T>A MANE Select	NP_001158221.1:p.Leu739Gln
NM_001165893.2:c.2126T>A	NP_001159365.1:p.Leu709Gln
NM_022123.3:c.2120T>A	NP_071406.1:p.Leu707Gln
NM_173159.3:c.2177T>A	NP_775182.1:p.Leu726Gln
NM_001394988.1:c.2171T>A	NP_001381917.1:p.Leu724Gln
NM_001394989.1:c.2117T>A	NP_001381918.1:p.Leu706Gln