Canonical Allele Identifier: CA486092946

Gene: NPAS3

Linked Data

• dbSNP Id: rs2063655024
• gnomAD v3: 14-33800233-T-C
• gnomAD v4: 14-33800233-T-C
• MyVariant Identifiers: chr14:g.34269439T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800233T>C , CM000676.2:g.33800233T>C	GRCh38
NC_000014.8:g.34269439T>C , CM000676.1:g.34269439T>C	GRCh37
NC_000014.7:g.33339190T>C	NCBI36
NG_013036.1:g.865981T>C
NG_013036.2:g.865981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1926T>C MANE Select	ENSP00000348460.4:p.Ser642=
ENST00000551634.6:c.1935T>C	ENSP00000448373.2:p.Ser645=
ENST00000680362.1:c.1826T>C
ENST00000681323.1:c.793+2652T>C
ENST00000346562.6:c.1830T>C	ENSP00000319610.5:p.Ser610=
ENST00000356141.8:c.1926T>C	ENSP00000348460.4:p.Ser642=
ENST00000357798.9:c.1887T>C	ENSP00000350446.5:p.Ser629=
ENST00000548645.5:c.1836T>C	ENSP00000448916.1:p.Ser612=
ENST00000551492.5:c.1941T>C	ENSP00000450392.1:p.Ser647=
ENST00000551634.5:c.1848T>C	ENSP00000448373.1:p.Ser616=
NM_001164749.1:c.1926T>C	NP_001158221.1:p.Ser642=
NM_001165893.1:c.1836T>C	NP_001159365.1:p.Ser612=
NM_022123.2:c.1830T>C	NP_071406.1:p.Ser610=
NM_173159.2:c.1887T>C	NP_775182.1:p.Ser629=
XM_005267991.2:c.1947T>C	XP_005268048.1:p.Ser649=
XM_005267992.2:c.1941T>C	XP_005268049.1:p.Ser647=
XM_005267993.2:c.1887T>C	XP_005268050.1:p.Ser629=
XM_011537067.1:c.1977T>C	XP_011535369.1:p.Ser659=
XM_011537068.1:c.1968T>C	XP_011535370.1:p.Ser656=
XM_011537069.1:c.1938T>C	XP_011535371.1:p.Ser646=
XM_011537070.1:c.1881T>C	XP_011535372.1:p.Ser627=
XM_011537071.1:c.1848T>C	XP_011535373.1:p.Ser616=
XM_011537072.1:c.1827T>C	XP_011535374.1:p.Ser609=
XM_011537073.1:c.1620T>C	XP_011535375.1:p.Ser540=
XM_011537074.1:c.1620T>C	XP_011535376.1:p.Ser540=
XM_005267991.3:c.2034T>C	XP_005268048.2:p.Ser678=
XM_005267992.3:c.2028T>C	XP_005268049.2:p.Ser676=
XM_011537067.2:c.1977T>C	XP_011535369.1:p.Ser659=
XM_011537069.2:c.2025T>C	XP_011535371.2:p.Ser675=
XM_011537070.2:c.1881T>C	XP_011535372.1:p.Ser627=
XM_011537071.2:c.1935T>C	XP_011535373.2:p.Ser645=
XM_011537072.2:c.1827T>C	XP_011535374.1:p.Ser609=
XM_017021582.1:c.2085T>C	XP_016877071.1:p.Ser695=
XM_017021583.1:c.2076T>C	XP_016877072.1:p.Ser692=
XM_017021584.1:c.1995T>C	XP_016877073.1:p.Ser665=
XM_017021585.1:c.1944T>C	XP_016877074.1:p.Ser648=
XM_017021586.1:c.1620T>C	XP_016877075.1:p.Ser540=
XM_017021587.1:c.1620T>C	XP_016877076.1:p.Ser540=
XM_017021588.1:c.1620T>C	XP_016877077.1:p.Ser540=
NM_001164749.2:c.1926T>C MANE Select	NP_001158221.1:p.Ser642=
NM_001165893.2:c.1836T>C	NP_001159365.1:p.Ser612=
NM_022123.3:c.1830T>C	NP_071406.1:p.Ser610=
NM_173159.3:c.1887T>C	NP_775182.1:p.Ser629=
NM_001394988.1:c.1881T>C	NP_001381917.1:p.Ser627=
NM_001394989.1:c.1827T>C	NP_001381918.1:p.Ser609=