Canonical Allele Identifier: CA389414156

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800491-G-T
• MyVariant Identifiers: chr14:g.34269697G>T (hg19) ; chr14:g.33800491G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800491G>T , CM000676.2:g.33800491G>T	GRCh38
NC_000014.8:g.34269697G>T , CM000676.1:g.34269697G>T	GRCh37
NC_000014.7:g.33339448G>T	NCBI36
NG_013036.1:g.866239G>T
NG_013036.2:g.866239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2184G>T MANE Select	ENSP00000348460.4:p.Lys728Asn
ENST00000551634.6:c.2193G>T	ENSP00000448373.2:p.Lys731Asn
ENST00000680362.1:c.2084G>T
ENST00000681323.1:c.793+2910G>T
ENST00000346562.6:c.2088G>T	ENSP00000319610.5:p.Lys696Asn
ENST00000356141.8:c.2184G>T	ENSP00000348460.4:p.Lys728Asn
ENST00000357798.9:c.2145G>T	ENSP00000350446.5:p.Lys715Asn
ENST00000548645.5:c.2094G>T	ENSP00000448916.1:p.Lys698Asn
ENST00000551492.5:c.2199G>T	ENSP00000450392.1:p.Lys733Asn
ENST00000551634.5:c.2106G>T	ENSP00000448373.1:p.Lys702Asn
NM_001164749.1:c.2184G>T	NP_001158221.1:p.Lys728Asn
NM_001165893.1:c.2094G>T	NP_001159365.1:p.Lys698Asn
NM_022123.2:c.2088G>T	NP_071406.1:p.Lys696Asn
NM_173159.2:c.2145G>T	NP_775182.1:p.Lys715Asn
XM_005267991.2:c.2205G>T	XP_005268048.1:p.Lys735Asn
XM_005267992.2:c.2199G>T	XP_005268049.1:p.Lys733Asn
XM_005267993.2:c.2145G>T	XP_005268050.1:p.Lys715Asn
XM_011537067.1:c.2235G>T	XP_011535369.1:p.Lys745Asn
XM_011537068.1:c.2226G>T	XP_011535370.1:p.Lys742Asn
XM_011537069.1:c.2196G>T	XP_011535371.1:p.Lys732Asn
XM_011537070.1:c.2139G>T	XP_011535372.1:p.Lys713Asn
XM_011537071.1:c.2106G>T	XP_011535373.1:p.Lys702Asn
XM_011537072.1:c.2085G>T	XP_011535374.1:p.Lys695Asn
XM_011537073.1:c.1878G>T	XP_011535375.1:p.Lys626Asn
XM_011537074.1:c.1878G>T	XP_011535376.1:p.Lys626Asn
XM_005267991.3:c.2292G>T	XP_005268048.2:p.Lys764Asn
XM_005267992.3:c.2286G>T	XP_005268049.2:p.Lys762Asn
XM_011537067.2:c.2235G>T	XP_011535369.1:p.Lys745Asn
XM_011537069.2:c.2283G>T	XP_011535371.2:p.Lys761Asn
XM_011537070.2:c.2139G>T	XP_011535372.1:p.Lys713Asn
XM_011537071.2:c.2193G>T	XP_011535373.2:p.Lys731Asn
XM_011537072.2:c.2085G>T	XP_011535374.1:p.Lys695Asn
XM_017021582.1:c.2343G>T	XP_016877071.1:p.Lys781Asn
XM_017021583.1:c.2334G>T	XP_016877072.1:p.Lys778Asn
XM_017021584.1:c.2253G>T	XP_016877073.1:p.Lys751Asn
XM_017021585.1:c.2202G>T	XP_016877074.1:p.Lys734Asn
XM_017021586.1:c.1878G>T	XP_016877075.1:p.Lys626Asn
XM_017021587.1:c.1878G>T	XP_016877076.1:p.Lys626Asn
XM_017021588.1:c.1878G>T	XP_016877077.1:p.Lys626Asn
NM_001164749.2:c.2184G>T MANE Select	NP_001158221.1:p.Lys728Asn
NM_001165893.2:c.2094G>T	NP_001159365.1:p.Lys698Asn
NM_022123.3:c.2088G>T	NP_071406.1:p.Lys696Asn
NM_173159.3:c.2145G>T	NP_775182.1:p.Lys715Asn
NM_001394988.1:c.2139G>T	NP_001381917.1:p.Lys713Asn
NM_001394989.1:c.2085G>T	NP_001381918.1:p.Lys695Asn