Canonical Allele Identifier: CA486093064

Gene: NPAS3

Linked Data

• dbSNP Id: rs1427797734
• gnomAD v3: 14-33800371-T-G
• gnomAD v4: 14-33800371-T-G
• MyVariant Identifiers: chr14:g.34269577T>G (hg19) ; chr14:g.33800371T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800371T>G , CM000676.2:g.33800371T>G	GRCh38
NC_000014.8:g.34269577T>G , CM000676.1:g.34269577T>G	GRCh37
NC_000014.7:g.33339328T>G	NCBI36
NG_013036.1:g.866119T>G
NG_013036.2:g.866119T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2064T>G MANE Select	ENSP00000348460.4:p.Ser688=
ENST00000551634.6:c.2073T>G	ENSP00000448373.2:p.Ser691=
ENST00000680362.1:c.1964T>G
ENST00000681323.1:c.793+2790T>G
ENST00000346562.6:c.1968T>G	ENSP00000319610.5:p.Ser656=
ENST00000356141.8:c.2064T>G	ENSP00000348460.4:p.Ser688=
ENST00000357798.9:c.2025T>G	ENSP00000350446.5:p.Ser675=
ENST00000548645.5:c.1974T>G	ENSP00000448916.1:p.Ser658=
ENST00000551492.5:c.2079T>G	ENSP00000450392.1:p.Ser693=
ENST00000551634.5:c.1986T>G	ENSP00000448373.1:p.Ser662=
NM_001164749.1:c.2064T>G	NP_001158221.1:p.Ser688=
NM_001165893.1:c.1974T>G	NP_001159365.1:p.Ser658=
NM_022123.2:c.1968T>G	NP_071406.1:p.Ser656=
NM_173159.2:c.2025T>G	NP_775182.1:p.Ser675=
XM_005267991.2:c.2085T>G	XP_005268048.1:p.Ser695=
XM_005267992.2:c.2079T>G	XP_005268049.1:p.Ser693=
XM_005267993.2:c.2025T>G	XP_005268050.1:p.Ser675=
XM_011537067.1:c.2115T>G	XP_011535369.1:p.Ser705=
XM_011537068.1:c.2106T>G	XP_011535370.1:p.Ser702=
XM_011537069.1:c.2076T>G	XP_011535371.1:p.Ser692=
XM_011537070.1:c.2019T>G	XP_011535372.1:p.Ser673=
XM_011537071.1:c.1986T>G	XP_011535373.1:p.Ser662=
XM_011537072.1:c.1965T>G	XP_011535374.1:p.Ser655=
XM_011537073.1:c.1758T>G	XP_011535375.1:p.Ser586=
XM_011537074.1:c.1758T>G	XP_011535376.1:p.Ser586=
XM_005267991.3:c.2172T>G	XP_005268048.2:p.Ser724=
XM_005267992.3:c.2166T>G	XP_005268049.2:p.Ser722=
XM_011537067.2:c.2115T>G	XP_011535369.1:p.Ser705=
XM_011537069.2:c.2163T>G	XP_011535371.2:p.Ser721=
XM_011537070.2:c.2019T>G	XP_011535372.1:p.Ser673=
XM_011537071.2:c.2073T>G	XP_011535373.2:p.Ser691=
XM_011537072.2:c.1965T>G	XP_011535374.1:p.Ser655=
XM_017021582.1:c.2223T>G	XP_016877071.1:p.Ser741=
XM_017021583.1:c.2214T>G	XP_016877072.1:p.Ser738=
XM_017021584.1:c.2133T>G	XP_016877073.1:p.Ser711=
XM_017021585.1:c.2082T>G	XP_016877074.1:p.Ser694=
XM_017021586.1:c.1758T>G	XP_016877075.1:p.Ser586=
XM_017021587.1:c.1758T>G	XP_016877076.1:p.Ser586=
XM_017021588.1:c.1758T>G	XP_016877077.1:p.Ser586=
NM_001164749.2:c.2064T>G MANE Select	NP_001158221.1:p.Ser688=
NM_001165893.2:c.1974T>G	NP_001159365.1:p.Ser658=
NM_022123.3:c.1968T>G	NP_071406.1:p.Ser656=
NM_173159.3:c.2025T>G	NP_775182.1:p.Ser675=
NM_001394988.1:c.2019T>G	NP_001381917.1:p.Ser673=
NM_001394989.1:c.1965T>G	NP_001381918.1:p.Ser655=