Canonical Allele Identifier: CA486093011

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800311-G-T
• MyVariant Identifiers: chr14:g.34269517G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800311G>T , CM000676.2:g.33800311G>T	GRCh38
NC_000014.8:g.34269517G>T , CM000676.1:g.34269517G>T	GRCh37
NC_000014.7:g.33339268G>T	NCBI36
NG_013036.1:g.866059G>T
NG_013036.2:g.866059G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2004G>T MANE Select	ENSP00000348460.4:p.Pro668=
ENST00000551634.6:c.2013G>T	ENSP00000448373.2:p.Pro671=
ENST00000680362.1:c.1904G>T
ENST00000681323.1:c.793+2730G>T
ENST00000346562.6:c.1908G>T	ENSP00000319610.5:p.Pro636=
ENST00000356141.8:c.2004G>T	ENSP00000348460.4:p.Pro668=
ENST00000357798.9:c.1965G>T	ENSP00000350446.5:p.Pro655=
ENST00000548645.5:c.1914G>T	ENSP00000448916.1:p.Pro638=
ENST00000551492.5:c.2019G>T	ENSP00000450392.1:p.Pro673=
ENST00000551634.5:c.1926G>T	ENSP00000448373.1:p.Pro642=
NM_001164749.1:c.2004G>T	NP_001158221.1:p.Pro668=
NM_001165893.1:c.1914G>T	NP_001159365.1:p.Pro638=
NM_022123.2:c.1908G>T	NP_071406.1:p.Pro636=
NM_173159.2:c.1965G>T	NP_775182.1:p.Pro655=
XM_005267991.2:c.2025G>T	XP_005268048.1:p.Pro675=
XM_005267992.2:c.2019G>T	XP_005268049.1:p.Pro673=
XM_005267993.2:c.1965G>T	XP_005268050.1:p.Pro655=
XM_011537067.1:c.2055G>T	XP_011535369.1:p.Pro685=
XM_011537068.1:c.2046G>T	XP_011535370.1:p.Pro682=
XM_011537069.1:c.2016G>T	XP_011535371.1:p.Pro672=
XM_011537070.1:c.1959G>T	XP_011535372.1:p.Pro653=
XM_011537071.1:c.1926G>T	XP_011535373.1:p.Pro642=
XM_011537072.1:c.1905G>T	XP_011535374.1:p.Pro635=
XM_011537073.1:c.1698G>T	XP_011535375.1:p.Pro566=
XM_011537074.1:c.1698G>T	XP_011535376.1:p.Pro566=
XM_005267991.3:c.2112G>T	XP_005268048.2:p.Pro704=
XM_005267992.3:c.2106G>T	XP_005268049.2:p.Pro702=
XM_011537067.2:c.2055G>T	XP_011535369.1:p.Pro685=
XM_011537069.2:c.2103G>T	XP_011535371.2:p.Pro701=
XM_011537070.2:c.1959G>T	XP_011535372.1:p.Pro653=
XM_011537071.2:c.2013G>T	XP_011535373.2:p.Pro671=
XM_011537072.2:c.1905G>T	XP_011535374.1:p.Pro635=
XM_017021582.1:c.2163G>T	XP_016877071.1:p.Pro721=
XM_017021583.1:c.2154G>T	XP_016877072.1:p.Pro718=
XM_017021584.1:c.2073G>T	XP_016877073.1:p.Pro691=
XM_017021585.1:c.2022G>T	XP_016877074.1:p.Pro674=
XM_017021586.1:c.1698G>T	XP_016877075.1:p.Pro566=
XM_017021587.1:c.1698G>T	XP_016877076.1:p.Pro566=
XM_017021588.1:c.1698G>T	XP_016877077.1:p.Pro566=
NM_001164749.2:c.2004G>T MANE Select	NP_001158221.1:p.Pro668=
NM_001165893.2:c.1914G>T	NP_001159365.1:p.Pro638=
NM_022123.3:c.1908G>T	NP_071406.1:p.Pro636=
NM_173159.3:c.1965G>T	NP_775182.1:p.Pro655=
NM_001394988.1:c.1959G>T	NP_001381917.1:p.Pro653=
NM_001394989.1:c.1905G>T	NP_001381918.1:p.Pro635=