Canonical Allele Identifier: CA389412345

Gene: NPAS3

Linked Data

• dbSNP Id: rs1339370907
• gnomAD v2: 14-34269291-C-A
• gnomAD v4: 14-33800085-C-A
• MyVariant Identifiers: chr14:g.34269291C>A (hg19) ; chr14:g.33800085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800085C>A , CM000676.2:g.33800085C>A	GRCh38
NC_000014.8:g.34269291C>A , CM000676.1:g.34269291C>A	GRCh37
NC_000014.7:g.33339042C>A	NCBI36
NG_013036.1:g.865833C>A
NG_013036.2:g.865833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1778C>A MANE Select	ENSP00000348460.4:p.Ala593Asp
ENST00000551634.6:c.1787C>A	ENSP00000448373.2:p.Ala596Asp
ENST00000680362.1:c.1678C>A
ENST00000681323.1:c.793+2504C>A
ENST00000346562.6:c.1682C>A	ENSP00000319610.5:p.Ala561Asp
ENST00000356141.8:c.1778C>A	ENSP00000348460.4:p.Ala593Asp
ENST00000357798.9:c.1739C>A	ENSP00000350446.5:p.Ala580Asp
ENST00000548645.5:c.1688C>A	ENSP00000448916.1:p.Ala563Asp
ENST00000551492.5:c.1793C>A	ENSP00000450392.1:p.Ala598Asp
ENST00000551634.5:c.1700C>A	ENSP00000448373.1:p.Ala567Asp
NM_001164749.1:c.1778C>A	NP_001158221.1:p.Ala593Asp
NM_001165893.1:c.1688C>A	NP_001159365.1:p.Ala563Asp
NM_022123.2:c.1682C>A	NP_071406.1:p.Ala561Asp
NM_173159.2:c.1739C>A	NP_775182.1:p.Ala580Asp
XM_005267991.2:c.1799C>A	XP_005268048.1:p.Ala600Asp
XM_005267992.2:c.1793C>A	XP_005268049.1:p.Ala598Asp
XM_005267993.2:c.1739C>A	XP_005268050.1:p.Ala580Asp
XM_011537067.1:c.1829C>A	XP_011535369.1:p.Ala610Asp
XM_011537068.1:c.1820C>A	XP_011535370.1:p.Ala607Asp
XM_011537069.1:c.1790C>A	XP_011535371.1:p.Ala597Asp
XM_011537070.1:c.1733C>A	XP_011535372.1:p.Ala578Asp
XM_011537071.1:c.1700C>A	XP_011535373.1:p.Ala567Asp
XM_011537072.1:c.1679C>A	XP_011535374.1:p.Ala560Asp
XM_011537073.1:c.1472C>A	XP_011535375.1:p.Ala491Asp
XM_011537074.1:c.1472C>A	XP_011535376.1:p.Ala491Asp
XM_005267991.3:c.1886C>A	XP_005268048.2:p.Ala629Asp
XM_005267992.3:c.1880C>A	XP_005268049.2:p.Ala627Asp
XM_011537067.2:c.1829C>A	XP_011535369.1:p.Ala610Asp
XM_011537069.2:c.1877C>A	XP_011535371.2:p.Ala626Asp
XM_011537070.2:c.1733C>A	XP_011535372.1:p.Ala578Asp
XM_011537071.2:c.1787C>A	XP_011535373.2:p.Ala596Asp
XM_011537072.2:c.1679C>A	XP_011535374.1:p.Ala560Asp
XM_017021582.1:c.1937C>A	XP_016877071.1:p.Ala646Asp
XM_017021583.1:c.1928C>A	XP_016877072.1:p.Ala643Asp
XM_017021584.1:c.1847C>A	XP_016877073.1:p.Ala616Asp
XM_017021585.1:c.1796C>A	XP_016877074.1:p.Ala599Asp
XM_017021586.1:c.1472C>A	XP_016877075.1:p.Ala491Asp
XM_017021587.1:c.1472C>A	XP_016877076.1:p.Ala491Asp
XM_017021588.1:c.1472C>A	XP_016877077.1:p.Ala491Asp
NM_001164749.2:c.1778C>A MANE Select	NP_001158221.1:p.Ala593Asp
NM_001165893.2:c.1688C>A	NP_001159365.1:p.Ala563Asp
NM_022123.3:c.1682C>A	NP_071406.1:p.Ala561Asp
NM_173159.3:c.1739C>A	NP_775182.1:p.Ala580Asp
NM_001394988.1:c.1733C>A	NP_001381917.1:p.Ala578Asp
NM_001394989.1:c.1679C>A	NP_001381918.1:p.Ala560Asp