Canonical Allele Identifier: CA486092952

Gene: NPAS3

Linked Data

• dbSNP Id: rs779982310
• gnomAD v2: 14-34269445-G-C
• gnomAD v4: 14-33800239-G-C
• MyVariant Identifiers: chr14:g.34269445G>C (hg19) ; chr14:g.33800239G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800239G>C , CM000676.2:g.33800239G>C	GRCh38
NC_000014.8:g.34269445G>C , CM000676.1:g.34269445G>C	GRCh37
NC_000014.7:g.33339196G>C	NCBI36
NG_013036.1:g.865987G>C
NG_013036.2:g.865987G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1932G>C MANE Select	ENSP00000348460.4:p.Ser644=
ENST00000551634.6:c.1941G>C	ENSP00000448373.2:p.Ser647=
ENST00000680362.1:c.1832G>C
ENST00000681323.1:c.793+2658G>C
ENST00000346562.6:c.1836G>C	ENSP00000319610.5:p.Ser612=
ENST00000356141.8:c.1932G>C	ENSP00000348460.4:p.Ser644=
ENST00000357798.9:c.1893G>C	ENSP00000350446.5:p.Ser631=
ENST00000548645.5:c.1842G>C	ENSP00000448916.1:p.Ser614=
ENST00000551492.5:c.1947G>C	ENSP00000450392.1:p.Ser649=
ENST00000551634.5:c.1854G>C	ENSP00000448373.1:p.Ser618=
NM_001164749.1:c.1932G>C	NP_001158221.1:p.Ser644=
NM_001165893.1:c.1842G>C	NP_001159365.1:p.Ser614=
NM_022123.2:c.1836G>C	NP_071406.1:p.Ser612=
NM_173159.2:c.1893G>C	NP_775182.1:p.Ser631=
XM_005267991.2:c.1953G>C	XP_005268048.1:p.Ser651=
XM_005267992.2:c.1947G>C	XP_005268049.1:p.Ser649=
XM_005267993.2:c.1893G>C	XP_005268050.1:p.Ser631=
XM_011537067.1:c.1983G>C	XP_011535369.1:p.Ser661=
XM_011537068.1:c.1974G>C	XP_011535370.1:p.Ser658=
XM_011537069.1:c.1944G>C	XP_011535371.1:p.Ser648=
XM_011537070.1:c.1887G>C	XP_011535372.1:p.Ser629=
XM_011537071.1:c.1854G>C	XP_011535373.1:p.Ser618=
XM_011537072.1:c.1833G>C	XP_011535374.1:p.Ser611=
XM_011537073.1:c.1626G>C	XP_011535375.1:p.Ser542=
XM_011537074.1:c.1626G>C	XP_011535376.1:p.Ser542=
XM_005267991.3:c.2040G>C	XP_005268048.2:p.Ser680=
XM_005267992.3:c.2034G>C	XP_005268049.2:p.Ser678=
XM_011537067.2:c.1983G>C	XP_011535369.1:p.Ser661=
XM_011537069.2:c.2031G>C	XP_011535371.2:p.Ser677=
XM_011537070.2:c.1887G>C	XP_011535372.1:p.Ser629=
XM_011537071.2:c.1941G>C	XP_011535373.2:p.Ser647=
XM_011537072.2:c.1833G>C	XP_011535374.1:p.Ser611=
XM_017021582.1:c.2091G>C	XP_016877071.1:p.Ser697=
XM_017021583.1:c.2082G>C	XP_016877072.1:p.Ser694=
XM_017021584.1:c.2001G>C	XP_016877073.1:p.Ser667=
XM_017021585.1:c.1950G>C	XP_016877074.1:p.Ser650=
XM_017021586.1:c.1626G>C	XP_016877075.1:p.Ser542=
XM_017021587.1:c.1626G>C	XP_016877076.1:p.Ser542=
XM_017021588.1:c.1626G>C	XP_016877077.1:p.Ser542=
NM_001164749.2:c.1932G>C MANE Select	NP_001158221.1:p.Ser644=
NM_001165893.2:c.1842G>C	NP_001159365.1:p.Ser614=
NM_022123.3:c.1836G>C	NP_071406.1:p.Ser612=
NM_173159.3:c.1893G>C	NP_775182.1:p.Ser631=
NM_001394988.1:c.1887G>C	NP_001381917.1:p.Ser629=
NM_001394989.1:c.1833G>C	NP_001381918.1:p.Ser611=