Canonical Allele Identifier: CA389414139

Gene: NPAS3

Linked Data

• dbSNP Id: rs1595644047
• gnomAD v3: 14-33800483-G-T
• gnomAD v4: 14-33800483-G-T
• MyVariant Identifiers: chr14:g.34269689G>T (hg19) ; chr14:g.33800483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800483G>T , CM000676.2:g.33800483G>T	GRCh38
NC_000014.8:g.34269689G>T , CM000676.1:g.34269689G>T	GRCh37
NC_000014.7:g.33339440G>T	NCBI36
NG_013036.1:g.866231G>T
NG_013036.2:g.866231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2176G>T MANE Select	ENSP00000348460.4:p.Ala726Ser
ENST00000551634.6:c.2185G>T	ENSP00000448373.2:p.Ala729Ser
ENST00000680362.1:c.2076G>T
ENST00000681323.1:c.793+2902G>T
ENST00000346562.6:c.2080G>T	ENSP00000319610.5:p.Ala694Ser
ENST00000356141.8:c.2176G>T	ENSP00000348460.4:p.Ala726Ser
ENST00000357798.9:c.2137G>T	ENSP00000350446.5:p.Ala713Ser
ENST00000548645.5:c.2086G>T	ENSP00000448916.1:p.Ala696Ser
ENST00000551492.5:c.2191G>T	ENSP00000450392.1:p.Ala731Ser
ENST00000551634.5:c.2098G>T	ENSP00000448373.1:p.Ala700Ser
NM_001164749.1:c.2176G>T	NP_001158221.1:p.Ala726Ser
NM_001165893.1:c.2086G>T	NP_001159365.1:p.Ala696Ser
NM_022123.2:c.2080G>T	NP_071406.1:p.Ala694Ser
NM_173159.2:c.2137G>T	NP_775182.1:p.Ala713Ser
XM_005267991.2:c.2197G>T	XP_005268048.1:p.Ala733Ser
XM_005267992.2:c.2191G>T	XP_005268049.1:p.Ala731Ser
XM_005267993.2:c.2137G>T	XP_005268050.1:p.Ala713Ser
XM_011537067.1:c.2227G>T	XP_011535369.1:p.Ala743Ser
XM_011537068.1:c.2218G>T	XP_011535370.1:p.Ala740Ser
XM_011537069.1:c.2188G>T	XP_011535371.1:p.Ala730Ser
XM_011537070.1:c.2131G>T	XP_011535372.1:p.Ala711Ser
XM_011537071.1:c.2098G>T	XP_011535373.1:p.Ala700Ser
XM_011537072.1:c.2077G>T	XP_011535374.1:p.Ala693Ser
XM_011537073.1:c.1870G>T	XP_011535375.1:p.Ala624Ser
XM_011537074.1:c.1870G>T	XP_011535376.1:p.Ala624Ser
XM_005267991.3:c.2284G>T	XP_005268048.2:p.Ala762Ser
XM_005267992.3:c.2278G>T	XP_005268049.2:p.Ala760Ser
XM_011537067.2:c.2227G>T	XP_011535369.1:p.Ala743Ser
XM_011537069.2:c.2275G>T	XP_011535371.2:p.Ala759Ser
XM_011537070.2:c.2131G>T	XP_011535372.1:p.Ala711Ser
XM_011537071.2:c.2185G>T	XP_011535373.2:p.Ala729Ser
XM_011537072.2:c.2077G>T	XP_011535374.1:p.Ala693Ser
XM_017021582.1:c.2335G>T	XP_016877071.1:p.Ala779Ser
XM_017021583.1:c.2326G>T	XP_016877072.1:p.Ala776Ser
XM_017021584.1:c.2245G>T	XP_016877073.1:p.Ala749Ser
XM_017021585.1:c.2194G>T	XP_016877074.1:p.Ala732Ser
XM_017021586.1:c.1870G>T	XP_016877075.1:p.Ala624Ser
XM_017021587.1:c.1870G>T	XP_016877076.1:p.Ala624Ser
XM_017021588.1:c.1870G>T	XP_016877077.1:p.Ala624Ser
NM_001164749.2:c.2176G>T MANE Select	NP_001158221.1:p.Ala726Ser
NM_001165893.2:c.2086G>T	NP_001159365.1:p.Ala696Ser
NM_022123.3:c.2080G>T	NP_071406.1:p.Ala694Ser
NM_173159.3:c.2137G>T	NP_775182.1:p.Ala713Ser
NM_001394988.1:c.2131G>T	NP_001381917.1:p.Ala711Ser
NM_001394989.1:c.2077G>T	NP_001381918.1:p.Ala693Ser