Canonical Allele Identifier: CA389414346

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269791C>T (hg19) ; chr14:g.33800585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800585C>T , CM000676.2:g.33800585C>T	GRCh38
NC_000014.8:g.34269791C>T , CM000676.1:g.34269791C>T	GRCh37
NC_000014.7:g.33339542C>T	NCBI36
NG_013036.1:g.866333C>T
NG_013036.2:g.866333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2278C>T MANE Select	ENSP00000348460.4:p.Pro760Ser
ENST00000551634.6:c.2287C>T	ENSP00000448373.2:p.Pro763Ser
ENST00000680362.1:c.2178C>T
ENST00000681323.1:c.793+3004C>T
ENST00000346562.6:c.2182C>T	ENSP00000319610.5:p.Pro728Ser
ENST00000356141.8:c.2278C>T	ENSP00000348460.4:p.Pro760Ser
ENST00000357798.9:c.2239C>T	ENSP00000350446.5:p.Pro747Ser
ENST00000548645.5:c.2188C>T	ENSP00000448916.1:p.Pro730Ser
ENST00000551492.5:c.2293C>T	ENSP00000450392.1:p.Pro765Ser
ENST00000551634.5:c.2200C>T	ENSP00000448373.1:p.Pro734Ser
NM_001164749.1:c.2278C>T	NP_001158221.1:p.Pro760Ser
NM_001165893.1:c.2188C>T	NP_001159365.1:p.Pro730Ser
NM_022123.2:c.2182C>T	NP_071406.1:p.Pro728Ser
NM_173159.2:c.2239C>T	NP_775182.1:p.Pro747Ser
XM_005267991.2:c.2299C>T	XP_005268048.1:p.Pro767Ser
XM_005267992.2:c.2293C>T	XP_005268049.1:p.Pro765Ser
XM_005267993.2:c.2239C>T	XP_005268050.1:p.Pro747Ser
XM_011537067.1:c.2329C>T	XP_011535369.1:p.Pro777Ser
XM_011537068.1:c.2320C>T	XP_011535370.1:p.Pro774Ser
XM_011537069.1:c.2290C>T	XP_011535371.1:p.Pro764Ser
XM_011537070.1:c.2233C>T	XP_011535372.1:p.Pro745Ser
XM_011537071.1:c.2200C>T	XP_011535373.1:p.Pro734Ser
XM_011537072.1:c.2179C>T	XP_011535374.1:p.Pro727Ser
XM_011537073.1:c.1972C>T	XP_011535375.1:p.Pro658Ser
XM_011537074.1:c.1972C>T	XP_011535376.1:p.Pro658Ser
XM_005267991.3:c.2386C>T	XP_005268048.2:p.Pro796Ser
XM_005267992.3:c.2380C>T	XP_005268049.2:p.Pro794Ser
XM_011537067.2:c.2329C>T	XP_011535369.1:p.Pro777Ser
XM_011537069.2:c.2377C>T	XP_011535371.2:p.Pro793Ser
XM_011537070.2:c.2233C>T	XP_011535372.1:p.Pro745Ser
XM_011537071.2:c.2287C>T	XP_011535373.2:p.Pro763Ser
XM_011537072.2:c.2179C>T	XP_011535374.1:p.Pro727Ser
XM_017021582.1:c.2437C>T	XP_016877071.1:p.Pro813Ser
XM_017021583.1:c.2428C>T	XP_016877072.1:p.Pro810Ser
XM_017021584.1:c.2347C>T	XP_016877073.1:p.Pro783Ser
XM_017021585.1:c.2296C>T	XP_016877074.1:p.Pro766Ser
XM_017021586.1:c.1972C>T	XP_016877075.1:p.Pro658Ser
XM_017021587.1:c.1972C>T	XP_016877076.1:p.Pro658Ser
XM_017021588.1:c.1972C>T	XP_016877077.1:p.Pro658Ser
NM_001164749.2:c.2278C>T MANE Select	NP_001158221.1:p.Pro760Ser
NM_001165893.2:c.2188C>T	NP_001159365.1:p.Pro730Ser
NM_022123.3:c.2182C>T	NP_071406.1:p.Pro728Ser
NM_173159.3:c.2239C>T	NP_775182.1:p.Pro747Ser
NM_001394988.1:c.2233C>T	NP_001381917.1:p.Pro745Ser
NM_001394989.1:c.2179C>T	NP_001381918.1:p.Pro727Ser