Canonical Allele Identifier: CA389412918

Gene: NPAS3

Linked Data

• MyVariant Identifiers: chr14:g.34269384G>C (hg19) ; chr14:g.33800178G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800178G>C , CM000676.2:g.33800178G>C	GRCh38
NC_000014.8:g.34269384G>C , CM000676.1:g.34269384G>C	GRCh37
NC_000014.7:g.33339135G>C	NCBI36
NG_013036.1:g.865926G>C
NG_013036.2:g.865926G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1871G>C MANE Select	ENSP00000348460.4:p.Gly624Ala
ENST00000551634.6:c.1880G>C	ENSP00000448373.2:p.Gly627Ala
ENST00000680362.1:c.1771G>C
ENST00000681323.1:c.793+2597G>C
ENST00000346562.6:c.1775G>C	ENSP00000319610.5:p.Gly592Ala
ENST00000356141.8:c.1871G>C	ENSP00000348460.4:p.Gly624Ala
ENST00000357798.9:c.1832G>C	ENSP00000350446.5:p.Gly611Ala
ENST00000548645.5:c.1781G>C	ENSP00000448916.1:p.Gly594Ala
ENST00000551492.5:c.1886G>C	ENSP00000450392.1:p.Gly629Ala
ENST00000551634.5:c.1793G>C	ENSP00000448373.1:p.Gly598Ala
NM_001164749.1:c.1871G>C	NP_001158221.1:p.Gly624Ala
NM_001165893.1:c.1781G>C	NP_001159365.1:p.Gly594Ala
NM_022123.2:c.1775G>C	NP_071406.1:p.Gly592Ala
NM_173159.2:c.1832G>C	NP_775182.1:p.Gly611Ala
XM_005267991.2:c.1892G>C	XP_005268048.1:p.Gly631Ala
XM_005267992.2:c.1886G>C	XP_005268049.1:p.Gly629Ala
XM_005267993.2:c.1832G>C	XP_005268050.1:p.Gly611Ala
XM_011537067.1:c.1922G>C	XP_011535369.1:p.Gly641Ala
XM_011537068.1:c.1913G>C	XP_011535370.1:p.Gly638Ala
XM_011537069.1:c.1883G>C	XP_011535371.1:p.Gly628Ala
XM_011537070.1:c.1826G>C	XP_011535372.1:p.Gly609Ala
XM_011537071.1:c.1793G>C	XP_011535373.1:p.Gly598Ala
XM_011537072.1:c.1772G>C	XP_011535374.1:p.Gly591Ala
XM_011537073.1:c.1565G>C	XP_011535375.1:p.Gly522Ala
XM_011537074.1:c.1565G>C	XP_011535376.1:p.Gly522Ala
XM_005267991.3:c.1979G>C	XP_005268048.2:p.Gly660Ala
XM_005267992.3:c.1973G>C	XP_005268049.2:p.Gly658Ala
XM_011537067.2:c.1922G>C	XP_011535369.1:p.Gly641Ala
XM_011537069.2:c.1970G>C	XP_011535371.2:p.Gly657Ala
XM_011537070.2:c.1826G>C	XP_011535372.1:p.Gly609Ala
XM_011537071.2:c.1880G>C	XP_011535373.2:p.Gly627Ala
XM_011537072.2:c.1772G>C	XP_011535374.1:p.Gly591Ala
XM_017021582.1:c.2030G>C	XP_016877071.1:p.Gly677Ala
XM_017021583.1:c.2021G>C	XP_016877072.1:p.Gly674Ala
XM_017021584.1:c.1940G>C	XP_016877073.1:p.Gly647Ala
XM_017021585.1:c.1889G>C	XP_016877074.1:p.Gly630Ala
XM_017021586.1:c.1565G>C	XP_016877075.1:p.Gly522Ala
XM_017021587.1:c.1565G>C	XP_016877076.1:p.Gly522Ala
XM_017021588.1:c.1565G>C	XP_016877077.1:p.Gly522Ala
NM_001164749.2:c.1871G>C MANE Select	NP_001158221.1:p.Gly624Ala
NM_001165893.2:c.1781G>C	NP_001159365.1:p.Gly594Ala
NM_022123.3:c.1775G>C	NP_071406.1:p.Gly592Ala
NM_173159.3:c.1832G>C	NP_775182.1:p.Gly611Ala
NM_001394988.1:c.1826G>C	NP_001381917.1:p.Gly609Ala
NM_001394989.1:c.1772G>C	NP_001381918.1:p.Gly591Ala