Canonical Allele Identifier: CA389413672

Gene: NPAS3

Linked Data

• dbSNP Id: rs1482840934
• gnomAD v2: 14-34269559-G-A
• gnomAD v4: 14-33800353-G-A
• MyVariant Identifiers: chr14:g.34269559G>A (hg19) ; chr14:g.33800353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800353G>A , CM000676.2:g.33800353G>A	GRCh38
NC_000014.8:g.34269559G>A , CM000676.1:g.34269559G>A	GRCh37
NC_000014.7:g.33339310G>A	NCBI36
NG_013036.1:g.866101G>A
NG_013036.2:g.866101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2046G>A MANE Select	ENSP00000348460.4:p.Met682Ile
ENST00000551634.6:c.2055G>A	ENSP00000448373.2:p.Met685Ile
ENST00000680362.1:c.1946G>A
ENST00000681323.1:c.793+2772G>A
ENST00000346562.6:c.1950G>A	ENSP00000319610.5:p.Met650Ile
ENST00000356141.8:c.2046G>A	ENSP00000348460.4:p.Met682Ile
ENST00000357798.9:c.2007G>A	ENSP00000350446.5:p.Met669Ile
ENST00000548645.5:c.1956G>A	ENSP00000448916.1:p.Met652Ile
ENST00000551492.5:c.2061G>A	ENSP00000450392.1:p.Met687Ile
ENST00000551634.5:c.1968G>A	ENSP00000448373.1:p.Met656Ile
NM_001164749.1:c.2046G>A	NP_001158221.1:p.Met682Ile
NM_001165893.1:c.1956G>A	NP_001159365.1:p.Met652Ile
NM_022123.2:c.1950G>A	NP_071406.1:p.Met650Ile
NM_173159.2:c.2007G>A	NP_775182.1:p.Met669Ile
XM_005267991.2:c.2067G>A	XP_005268048.1:p.Met689Ile
XM_005267992.2:c.2061G>A	XP_005268049.1:p.Met687Ile
XM_005267993.2:c.2007G>A	XP_005268050.1:p.Met669Ile
XM_011537067.1:c.2097G>A	XP_011535369.1:p.Met699Ile
XM_011537068.1:c.2088G>A	XP_011535370.1:p.Met696Ile
XM_011537069.1:c.2058G>A	XP_011535371.1:p.Met686Ile
XM_011537070.1:c.2001G>A	XP_011535372.1:p.Met667Ile
XM_011537071.1:c.1968G>A	XP_011535373.1:p.Met656Ile
XM_011537072.1:c.1947G>A	XP_011535374.1:p.Met649Ile
XM_011537073.1:c.1740G>A	XP_011535375.1:p.Met580Ile
XM_011537074.1:c.1740G>A	XP_011535376.1:p.Met580Ile
XM_005267991.3:c.2154G>A	XP_005268048.2:p.Met718Ile
XM_005267992.3:c.2148G>A	XP_005268049.2:p.Met716Ile
XM_011537067.2:c.2097G>A	XP_011535369.1:p.Met699Ile
XM_011537069.2:c.2145G>A	XP_011535371.2:p.Met715Ile
XM_011537070.2:c.2001G>A	XP_011535372.1:p.Met667Ile
XM_011537071.2:c.2055G>A	XP_011535373.2:p.Met685Ile
XM_011537072.2:c.1947G>A	XP_011535374.1:p.Met649Ile
XM_017021582.1:c.2205G>A	XP_016877071.1:p.Met735Ile
XM_017021583.1:c.2196G>A	XP_016877072.1:p.Met732Ile
XM_017021584.1:c.2115G>A	XP_016877073.1:p.Met705Ile
XM_017021585.1:c.2064G>A	XP_016877074.1:p.Met688Ile
XM_017021586.1:c.1740G>A	XP_016877075.1:p.Met580Ile
XM_017021587.1:c.1740G>A	XP_016877076.1:p.Met580Ile
XM_017021588.1:c.1740G>A	XP_016877077.1:p.Met580Ile
NM_001164749.2:c.2046G>A MANE Select	NP_001158221.1:p.Met682Ile
NM_001165893.2:c.1956G>A	NP_001159365.1:p.Met652Ile
NM_022123.3:c.1950G>A	NP_071406.1:p.Met650Ile
NM_173159.3:c.2007G>A	NP_775182.1:p.Met669Ile
NM_001394988.1:c.2001G>A	NP_001381917.1:p.Met667Ile
NM_001394989.1:c.1947G>A	NP_001381918.1:p.Met649Ile