Canonical Allele Identifier: CA389413079

Gene: NPAS3

Linked Data

• dbSNP Id: rs1457191142
• gnomAD v2: 14-34269428-T-C
• gnomAD v4: 14-33800222-T-C
• MyVariant Identifiers: chr14:g.34269428T>C (hg19) ; chr14:g.33800222T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800222T>C , CM000676.2:g.33800222T>C	GRCh38
NC_000014.8:g.34269428T>C , CM000676.1:g.34269428T>C	GRCh37
NC_000014.7:g.33339179T>C	NCBI36
NG_013036.1:g.865970T>C
NG_013036.2:g.865970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1915T>C MANE Select	ENSP00000348460.4:p.Ser639Pro
ENST00000551634.6:c.1924T>C	ENSP00000448373.2:p.Ser642Pro
ENST00000680362.1:c.1815T>C
ENST00000681323.1:c.793+2641T>C
ENST00000346562.6:c.1819T>C	ENSP00000319610.5:p.Ser607Pro
ENST00000356141.8:c.1915T>C	ENSP00000348460.4:p.Ser639Pro
ENST00000357798.9:c.1876T>C	ENSP00000350446.5:p.Ser626Pro
ENST00000548645.5:c.1825T>C	ENSP00000448916.1:p.Ser609Pro
ENST00000551492.5:c.1930T>C	ENSP00000450392.1:p.Ser644Pro
ENST00000551634.5:c.1837T>C	ENSP00000448373.1:p.Ser613Pro
NM_001164749.1:c.1915T>C	NP_001158221.1:p.Ser639Pro
NM_001165893.1:c.1825T>C	NP_001159365.1:p.Ser609Pro
NM_022123.2:c.1819T>C	NP_071406.1:p.Ser607Pro
NM_173159.2:c.1876T>C	NP_775182.1:p.Ser626Pro
XM_005267991.2:c.1936T>C	XP_005268048.1:p.Ser646Pro
XM_005267992.2:c.1930T>C	XP_005268049.1:p.Ser644Pro
XM_005267993.2:c.1876T>C	XP_005268050.1:p.Ser626Pro
XM_011537067.1:c.1966T>C	XP_011535369.1:p.Ser656Pro
XM_011537068.1:c.1957T>C	XP_011535370.1:p.Ser653Pro
XM_011537069.1:c.1927T>C	XP_011535371.1:p.Ser643Pro
XM_011537070.1:c.1870T>C	XP_011535372.1:p.Ser624Pro
XM_011537071.1:c.1837T>C	XP_011535373.1:p.Ser613Pro
XM_011537072.1:c.1816T>C	XP_011535374.1:p.Ser606Pro
XM_011537073.1:c.1609T>C	XP_011535375.1:p.Ser537Pro
XM_011537074.1:c.1609T>C	XP_011535376.1:p.Ser537Pro
XM_005267991.3:c.2023T>C	XP_005268048.2:p.Ser675Pro
XM_005267992.3:c.2017T>C	XP_005268049.2:p.Ser673Pro
XM_011537067.2:c.1966T>C	XP_011535369.1:p.Ser656Pro
XM_011537069.2:c.2014T>C	XP_011535371.2:p.Ser672Pro
XM_011537070.2:c.1870T>C	XP_011535372.1:p.Ser624Pro
XM_011537071.2:c.1924T>C	XP_011535373.2:p.Ser642Pro
XM_011537072.2:c.1816T>C	XP_011535374.1:p.Ser606Pro
XM_017021582.1:c.2074T>C	XP_016877071.1:p.Ser692Pro
XM_017021583.1:c.2065T>C	XP_016877072.1:p.Ser689Pro
XM_017021584.1:c.1984T>C	XP_016877073.1:p.Ser662Pro
XM_017021585.1:c.1933T>C	XP_016877074.1:p.Ser645Pro
XM_017021586.1:c.1609T>C	XP_016877075.1:p.Ser537Pro
XM_017021587.1:c.1609T>C	XP_016877076.1:p.Ser537Pro
XM_017021588.1:c.1609T>C	XP_016877077.1:p.Ser537Pro
NM_001164749.2:c.1915T>C MANE Select	NP_001158221.1:p.Ser639Pro
NM_001165893.2:c.1825T>C	NP_001159365.1:p.Ser609Pro
NM_022123.3:c.1819T>C	NP_071406.1:p.Ser607Pro
NM_173159.3:c.1876T>C	NP_775182.1:p.Ser626Pro
NM_001394988.1:c.1870T>C	NP_001381917.1:p.Ser624Pro
NM_001394989.1:c.1816T>C	NP_001381918.1:p.Ser606Pro