Canonical Allele Identifier: CA258718779

Gene: NPAS3

Linked Data

• dbSNP Id: rs12879879
• gnomAD v4: 14-33800158-G-T
• MyVariant Identifiers: chr14:g.34269364G>T (hg19) ; chr14:g.33800158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800158G>T , CM000676.2:g.33800158G>T	GRCh38
NC_000014.8:g.34269364G>T , CM000676.1:g.34269364G>T	GRCh37
NC_000014.7:g.33339115G>T	NCBI36
NG_013036.1:g.865906G>T
NG_013036.2:g.865906G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1851G>T MANE Select	ENSP00000348460.4:p.Leu617=
ENST00000551634.6:c.1860G>T	ENSP00000448373.2:p.Leu620=
ENST00000680362.1:c.1751G>T
ENST00000681323.1:c.793+2577G>T
ENST00000346562.6:c.1755G>T	ENSP00000319610.5:p.Leu585=
ENST00000356141.8:c.1851G>T	ENSP00000348460.4:p.Leu617=
ENST00000357798.9:c.1812G>T	ENSP00000350446.5:p.Leu604=
ENST00000548645.5:c.1761G>T	ENSP00000448916.1:p.Leu587=
ENST00000551492.5:c.1866G>T	ENSP00000450392.1:p.Leu622=
ENST00000551634.5:c.1773G>T	ENSP00000448373.1:p.Leu591=
NM_001164749.1:c.1851G>T	NP_001158221.1:p.Leu617=
NM_001165893.1:c.1761G>T	NP_001159365.1:p.Leu587=
NM_022123.2:c.1755G>T	NP_071406.1:p.Leu585=
NM_173159.2:c.1812G>T	NP_775182.1:p.Leu604=
XM_005267991.2:c.1872G>T	XP_005268048.1:p.Leu624=
XM_005267992.2:c.1866G>T	XP_005268049.1:p.Leu622=
XM_005267993.2:c.1812G>T	XP_005268050.1:p.Leu604=
XM_011537067.1:c.1902G>T	XP_011535369.1:p.Leu634=
XM_011537068.1:c.1893G>T	XP_011535370.1:p.Leu631=
XM_011537069.1:c.1863G>T	XP_011535371.1:p.Leu621=
XM_011537070.1:c.1806G>T	XP_011535372.1:p.Leu602=
XM_011537071.1:c.1773G>T	XP_011535373.1:p.Leu591=
XM_011537072.1:c.1752G>T	XP_011535374.1:p.Leu584=
XM_011537073.1:c.1545G>T	XP_011535375.1:p.Leu515=
XM_011537074.1:c.1545G>T	XP_011535376.1:p.Leu515=
XM_005267991.3:c.1959G>T	XP_005268048.2:p.Leu653=
XM_005267992.3:c.1953G>T	XP_005268049.2:p.Leu651=
XM_011537067.2:c.1902G>T	XP_011535369.1:p.Leu634=
XM_011537069.2:c.1950G>T	XP_011535371.2:p.Leu650=
XM_011537070.2:c.1806G>T	XP_011535372.1:p.Leu602=
XM_011537071.2:c.1860G>T	XP_011535373.2:p.Leu620=
XM_011537072.2:c.1752G>T	XP_011535374.1:p.Leu584=
XM_017021582.1:c.2010G>T	XP_016877071.1:p.Leu670=
XM_017021583.1:c.2001G>T	XP_016877072.1:p.Leu667=
XM_017021584.1:c.1920G>T	XP_016877073.1:p.Leu640=
XM_017021585.1:c.1869G>T	XP_016877074.1:p.Leu623=
XM_017021586.1:c.1545G>T	XP_016877075.1:p.Leu515=
XM_017021587.1:c.1545G>T	XP_016877076.1:p.Leu515=
XM_017021588.1:c.1545G>T	XP_016877077.1:p.Leu515=
NM_001164749.2:c.1851G>T MANE Select	NP_001158221.1:p.Leu617=
NM_001165893.2:c.1761G>T	NP_001159365.1:p.Leu587=
NM_022123.3:c.1755G>T	NP_071406.1:p.Leu585=
NM_173159.3:c.1812G>T	NP_775182.1:p.Leu604=
NM_001394988.1:c.1806G>T	NP_001381917.1:p.Leu602=
NM_001394989.1:c.1752G>T	NP_001381918.1:p.Leu584=