Canonical Allele Identifier: CA389413478

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800310-C-A
• MyVariant Identifiers: chr14:g.34269516C>A (hg19) ; chr14:g.33800310C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800310C>A , CM000676.2:g.33800310C>A	GRCh38
NC_000014.8:g.34269516C>A , CM000676.1:g.34269516C>A	GRCh37
NC_000014.7:g.33339267C>A	NCBI36
NG_013036.1:g.866058C>A
NG_013036.2:g.866058C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2003C>A MANE Select	ENSP00000348460.4:p.Pro668Gln
ENST00000551634.6:c.2012C>A	ENSP00000448373.2:p.Pro671Gln
ENST00000680362.1:c.1903C>A
ENST00000681323.1:c.793+2729C>A
ENST00000346562.6:c.1907C>A	ENSP00000319610.5:p.Pro636Gln
ENST00000356141.8:c.2003C>A	ENSP00000348460.4:p.Pro668Gln
ENST00000357798.9:c.1964C>A	ENSP00000350446.5:p.Pro655Gln
ENST00000548645.5:c.1913C>A	ENSP00000448916.1:p.Pro638Gln
ENST00000551492.5:c.2018C>A	ENSP00000450392.1:p.Pro673Gln
ENST00000551634.5:c.1925C>A	ENSP00000448373.1:p.Pro642Gln
NM_001164749.1:c.2003C>A	NP_001158221.1:p.Pro668Gln
NM_001165893.1:c.1913C>A	NP_001159365.1:p.Pro638Gln
NM_022123.2:c.1907C>A	NP_071406.1:p.Pro636Gln
NM_173159.2:c.1964C>A	NP_775182.1:p.Pro655Gln
XM_005267991.2:c.2024C>A	XP_005268048.1:p.Pro675Gln
XM_005267992.2:c.2018C>A	XP_005268049.1:p.Pro673Gln
XM_005267993.2:c.1964C>A	XP_005268050.1:p.Pro655Gln
XM_011537067.1:c.2054C>A	XP_011535369.1:p.Pro685Gln
XM_011537068.1:c.2045C>A	XP_011535370.1:p.Pro682Gln
XM_011537069.1:c.2015C>A	XP_011535371.1:p.Pro672Gln
XM_011537070.1:c.1958C>A	XP_011535372.1:p.Pro653Gln
XM_011537071.1:c.1925C>A	XP_011535373.1:p.Pro642Gln
XM_011537072.1:c.1904C>A	XP_011535374.1:p.Pro635Gln
XM_011537073.1:c.1697C>A	XP_011535375.1:p.Pro566Gln
XM_011537074.1:c.1697C>A	XP_011535376.1:p.Pro566Gln
XM_005267991.3:c.2111C>A	XP_005268048.2:p.Pro704Gln
XM_005267992.3:c.2105C>A	XP_005268049.2:p.Pro702Gln
XM_011537067.2:c.2054C>A	XP_011535369.1:p.Pro685Gln
XM_011537069.2:c.2102C>A	XP_011535371.2:p.Pro701Gln
XM_011537070.2:c.1958C>A	XP_011535372.1:p.Pro653Gln
XM_011537071.2:c.2012C>A	XP_011535373.2:p.Pro671Gln
XM_011537072.2:c.1904C>A	XP_011535374.1:p.Pro635Gln
XM_017021582.1:c.2162C>A	XP_016877071.1:p.Pro721Gln
XM_017021583.1:c.2153C>A	XP_016877072.1:p.Pro718Gln
XM_017021584.1:c.2072C>A	XP_016877073.1:p.Pro691Gln
XM_017021585.1:c.2021C>A	XP_016877074.1:p.Pro674Gln
XM_017021586.1:c.1697C>A	XP_016877075.1:p.Pro566Gln
XM_017021587.1:c.1697C>A	XP_016877076.1:p.Pro566Gln
XM_017021588.1:c.1697C>A	XP_016877077.1:p.Pro566Gln
NM_001164749.2:c.2003C>A MANE Select	NP_001158221.1:p.Pro668Gln
NM_001165893.2:c.1913C>A	NP_001159365.1:p.Pro638Gln
NM_022123.3:c.1907C>A	NP_071406.1:p.Pro636Gln
NM_173159.3:c.1964C>A	NP_775182.1:p.Pro655Gln
NM_001394988.1:c.1958C>A	NP_001381917.1:p.Pro653Gln
NM_001394989.1:c.1904C>A	NP_001381918.1:p.Pro635Gln