Canonical Allele Identifier: CA389413634

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269552A>C (hg19) ; chr14:g.33800346A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800346A>C , CM000676.2:g.33800346A>C	GRCh38
NC_000014.8:g.34269552A>C , CM000676.1:g.34269552A>C	GRCh37
NC_000014.7:g.33339303A>C	NCBI36
NG_013036.1:g.866094A>C
NG_013036.2:g.866094A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2039A>C MANE Select	ENSP00000348460.4:p.Tyr680Ser
ENST00000551634.6:c.2048A>C	ENSP00000448373.2:p.Tyr683Ser
ENST00000680362.1:c.1939A>C
ENST00000681323.1:c.793+2765A>C
ENST00000346562.6:c.1943A>C	ENSP00000319610.5:p.Tyr648Ser
ENST00000356141.8:c.2039A>C	ENSP00000348460.4:p.Tyr680Ser
ENST00000357798.9:c.2000A>C	ENSP00000350446.5:p.Tyr667Ser
ENST00000548645.5:c.1949A>C	ENSP00000448916.1:p.Tyr650Ser
ENST00000551492.5:c.2054A>C	ENSP00000450392.1:p.Tyr685Ser
ENST00000551634.5:c.1961A>C	ENSP00000448373.1:p.Tyr654Ser
NM_001164749.1:c.2039A>C	NP_001158221.1:p.Tyr680Ser
NM_001165893.1:c.1949A>C	NP_001159365.1:p.Tyr650Ser
NM_022123.2:c.1943A>C	NP_071406.1:p.Tyr648Ser
NM_173159.2:c.2000A>C	NP_775182.1:p.Tyr667Ser
XM_005267991.2:c.2060A>C	XP_005268048.1:p.Tyr687Ser
XM_005267992.2:c.2054A>C	XP_005268049.1:p.Tyr685Ser
XM_005267993.2:c.2000A>C	XP_005268050.1:p.Tyr667Ser
XM_011537067.1:c.2090A>C	XP_011535369.1:p.Tyr697Ser
XM_011537068.1:c.2081A>C	XP_011535370.1:p.Tyr694Ser
XM_011537069.1:c.2051A>C	XP_011535371.1:p.Tyr684Ser
XM_011537070.1:c.1994A>C	XP_011535372.1:p.Tyr665Ser
XM_011537071.1:c.1961A>C	XP_011535373.1:p.Tyr654Ser
XM_011537072.1:c.1940A>C	XP_011535374.1:p.Tyr647Ser
XM_011537073.1:c.1733A>C	XP_011535375.1:p.Tyr578Ser
XM_011537074.1:c.1733A>C	XP_011535376.1:p.Tyr578Ser
XM_005267991.3:c.2147A>C	XP_005268048.2:p.Tyr716Ser
XM_005267992.3:c.2141A>C	XP_005268049.2:p.Tyr714Ser
XM_011537067.2:c.2090A>C	XP_011535369.1:p.Tyr697Ser
XM_011537069.2:c.2138A>C	XP_011535371.2:p.Tyr713Ser
XM_011537070.2:c.1994A>C	XP_011535372.1:p.Tyr665Ser
XM_011537071.2:c.2048A>C	XP_011535373.2:p.Tyr683Ser
XM_011537072.2:c.1940A>C	XP_011535374.1:p.Tyr647Ser
XM_017021582.1:c.2198A>C	XP_016877071.1:p.Tyr733Ser
XM_017021583.1:c.2189A>C	XP_016877072.1:p.Tyr730Ser
XM_017021584.1:c.2108A>C	XP_016877073.1:p.Tyr703Ser
XM_017021585.1:c.2057A>C	XP_016877074.1:p.Tyr686Ser
XM_017021586.1:c.1733A>C	XP_016877075.1:p.Tyr578Ser
XM_017021587.1:c.1733A>C	XP_016877076.1:p.Tyr578Ser
XM_017021588.1:c.1733A>C	XP_016877077.1:p.Tyr578Ser
NM_001164749.2:c.2039A>C MANE Select	NP_001158221.1:p.Tyr680Ser
NM_001165893.2:c.1949A>C	NP_001159365.1:p.Tyr650Ser
NM_022123.3:c.1943A>C	NP_071406.1:p.Tyr648Ser
NM_173159.3:c.2000A>C	NP_775182.1:p.Tyr667Ser
NM_001394988.1:c.1994A>C	NP_001381917.1:p.Tyr665Ser
NM_001394989.1:c.1940A>C	NP_001381918.1:p.Tyr647Ser