Canonical Allele Identifier: CA486093361

Gene: NPAS3

Linked Data

• gnomAD v4: 14-33800545-G-C
• MyVariant Identifiers: chr14:g.34269751G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800545G>C , CM000676.2:g.33800545G>C	GRCh38
NC_000014.8:g.34269751G>C , CM000676.1:g.34269751G>C	GRCh37
NC_000014.7:g.33339502G>C	NCBI36
NG_013036.1:g.866293G>C
NG_013036.2:g.866293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.2238G>C MANE Select	ENSP00000348460.4:p.Pro746=
ENST00000551634.6:c.2247G>C	ENSP00000448373.2:p.Pro749=
ENST00000680362.1:c.2138G>C
ENST00000681323.1:c.793+2964G>C
ENST00000346562.6:c.2142G>C	ENSP00000319610.5:p.Pro714=
ENST00000356141.8:c.2238G>C	ENSP00000348460.4:p.Pro746=
ENST00000357798.9:c.2199G>C	ENSP00000350446.5:p.Pro733=
ENST00000548645.5:c.2148G>C	ENSP00000448916.1:p.Pro716=
ENST00000551492.5:c.2253G>C	ENSP00000450392.1:p.Pro751=
ENST00000551634.5:c.2160G>C	ENSP00000448373.1:p.Pro720=
NM_001164749.1:c.2238G>C	NP_001158221.1:p.Pro746=
NM_001165893.1:c.2148G>C	NP_001159365.1:p.Pro716=
NM_022123.2:c.2142G>C	NP_071406.1:p.Pro714=
NM_173159.2:c.2199G>C	NP_775182.1:p.Pro733=
XM_005267991.2:c.2259G>C	XP_005268048.1:p.Pro753=
XM_005267992.2:c.2253G>C	XP_005268049.1:p.Pro751=
XM_005267993.2:c.2199G>C	XP_005268050.1:p.Pro733=
XM_011537067.1:c.2289G>C	XP_011535369.1:p.Pro763=
XM_011537068.1:c.2280G>C	XP_011535370.1:p.Pro760=
XM_011537069.1:c.2250G>C	XP_011535371.1:p.Pro750=
XM_011537070.1:c.2193G>C	XP_011535372.1:p.Pro731=
XM_011537071.1:c.2160G>C	XP_011535373.1:p.Pro720=
XM_011537072.1:c.2139G>C	XP_011535374.1:p.Pro713=
XM_011537073.1:c.1932G>C	XP_011535375.1:p.Pro644=
XM_011537074.1:c.1932G>C	XP_011535376.1:p.Pro644=
XM_005267991.3:c.2346G>C	XP_005268048.2:p.Pro782=
XM_005267992.3:c.2340G>C	XP_005268049.2:p.Pro780=
XM_011537067.2:c.2289G>C	XP_011535369.1:p.Pro763=
XM_011537069.2:c.2337G>C	XP_011535371.2:p.Pro779=
XM_011537070.2:c.2193G>C	XP_011535372.1:p.Pro731=
XM_011537071.2:c.2247G>C	XP_011535373.2:p.Pro749=
XM_011537072.2:c.2139G>C	XP_011535374.1:p.Pro713=
XM_017021582.1:c.2397G>C	XP_016877071.1:p.Pro799=
XM_017021583.1:c.2388G>C	XP_016877072.1:p.Pro796=
XM_017021584.1:c.2307G>C	XP_016877073.1:p.Pro769=
XM_017021585.1:c.2256G>C	XP_016877074.1:p.Pro752=
XM_017021586.1:c.1932G>C	XP_016877075.1:p.Pro644=
XM_017021587.1:c.1932G>C	XP_016877076.1:p.Pro644=
XM_017021588.1:c.1932G>C	XP_016877077.1:p.Pro644=
NM_001164749.2:c.2238G>C MANE Select	NP_001158221.1:p.Pro746=
NM_001165893.2:c.2148G>C	NP_001159365.1:p.Pro716=
NM_022123.3:c.2142G>C	NP_071406.1:p.Pro714=
NM_173159.3:c.2199G>C	NP_775182.1:p.Pro733=
NM_001394988.1:c.2193G>C	NP_001381917.1:p.Pro731=
NM_001394989.1:c.2139G>C	NP_001381918.1:p.Pro713=