Canonical Allele Identifier: CA389412850

Gene: NPAS3

Linked Data

• dbSNP Id: rs763025424
• gnomAD v2: 14-34269371-G-T
• gnomAD v3: 14-33800165-G-T
• gnomAD v4: 14-33800165-G-T
• MyVariant Identifiers: chr14:g.34269371G>T (hg19) ; chr14:g.33800165G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800165G>T , CM000676.2:g.33800165G>T	GRCh38
NC_000014.8:g.34269371G>T , CM000676.1:g.34269371G>T	GRCh37
NC_000014.7:g.33339122G>T	NCBI36
NG_013036.1:g.865913G>T
NG_013036.2:g.865913G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1858G>T MANE Select	ENSP00000348460.4:p.Ala620Ser
ENST00000551634.6:c.1867G>T	ENSP00000448373.2:p.Ala623Ser
ENST00000680362.1:c.1758G>T
ENST00000681323.1:c.793+2584G>T
ENST00000346562.6:c.1762G>T	ENSP00000319610.5:p.Ala588Ser
ENST00000356141.8:c.1858G>T	ENSP00000348460.4:p.Ala620Ser
ENST00000357798.9:c.1819G>T	ENSP00000350446.5:p.Ala607Ser
ENST00000548645.5:c.1768G>T	ENSP00000448916.1:p.Ala590Ser
ENST00000551492.5:c.1873G>T	ENSP00000450392.1:p.Ala625Ser
ENST00000551634.5:c.1780G>T	ENSP00000448373.1:p.Ala594Ser
NM_001164749.1:c.1858G>T	NP_001158221.1:p.Ala620Ser
NM_001165893.1:c.1768G>T	NP_001159365.1:p.Ala590Ser
NM_022123.2:c.1762G>T	NP_071406.1:p.Ala588Ser
NM_173159.2:c.1819G>T	NP_775182.1:p.Ala607Ser
XM_005267991.2:c.1879G>T	XP_005268048.1:p.Ala627Ser
XM_005267992.2:c.1873G>T	XP_005268049.1:p.Ala625Ser
XM_005267993.2:c.1819G>T	XP_005268050.1:p.Ala607Ser
XM_011537067.1:c.1909G>T	XP_011535369.1:p.Ala637Ser
XM_011537068.1:c.1900G>T	XP_011535370.1:p.Ala634Ser
XM_011537069.1:c.1870G>T	XP_011535371.1:p.Ala624Ser
XM_011537070.1:c.1813G>T	XP_011535372.1:p.Ala605Ser
XM_011537071.1:c.1780G>T	XP_011535373.1:p.Ala594Ser
XM_011537072.1:c.1759G>T	XP_011535374.1:p.Ala587Ser
XM_011537073.1:c.1552G>T	XP_011535375.1:p.Ala518Ser
XM_011537074.1:c.1552G>T	XP_011535376.1:p.Ala518Ser
XM_005267991.3:c.1966G>T	XP_005268048.2:p.Ala656Ser
XM_005267992.3:c.1960G>T	XP_005268049.2:p.Ala654Ser
XM_011537067.2:c.1909G>T	XP_011535369.1:p.Ala637Ser
XM_011537069.2:c.1957G>T	XP_011535371.2:p.Ala653Ser
XM_011537070.2:c.1813G>T	XP_011535372.1:p.Ala605Ser
XM_011537071.2:c.1867G>T	XP_011535373.2:p.Ala623Ser
XM_011537072.2:c.1759G>T	XP_011535374.1:p.Ala587Ser
XM_017021582.1:c.2017G>T	XP_016877071.1:p.Ala673Ser
XM_017021583.1:c.2008G>T	XP_016877072.1:p.Ala670Ser
XM_017021584.1:c.1927G>T	XP_016877073.1:p.Ala643Ser
XM_017021585.1:c.1876G>T	XP_016877074.1:p.Ala626Ser
XM_017021586.1:c.1552G>T	XP_016877075.1:p.Ala518Ser
XM_017021587.1:c.1552G>T	XP_016877076.1:p.Ala518Ser
XM_017021588.1:c.1552G>T	XP_016877077.1:p.Ala518Ser
NM_001164749.2:c.1858G>T MANE Select	NP_001158221.1:p.Ala620Ser
NM_001165893.2:c.1768G>T	NP_001159365.1:p.Ala590Ser
NM_022123.3:c.1762G>T	NP_071406.1:p.Ala588Ser
NM_173159.3:c.1819G>T	NP_775182.1:p.Ala607Ser
NM_001394988.1:c.1813G>T	NP_001381917.1:p.Ala605Ser
NM_001394989.1:c.1759G>T	NP_001381918.1:p.Ala587Ser