Canonical Allele Identifier: CA7150916

Gene: NPAS3

Linked Data

• dbSNP Id: rs776577775
• ExAC: 14:34269461 A / G
• gnomAD v2: 14-34269461-A-G
• gnomAD v4: 14-33800255-A-G
• MyVariant Identifiers: chr14:g.34269461A>G (hg19) ; chr14:g.33800255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.33800255A>G , CM000676.2:g.33800255A>G	GRCh38
NC_000014.8:g.34269461A>G , CM000676.1:g.34269461A>G	GRCh37
NC_000014.7:g.33339212A>G	NCBI36
NG_013036.1:g.866003A>G
NG_013036.2:g.866003A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356141.9:c.1948A>G MANE Select	ENSP00000348460.4:p.Thr650Ala
ENST00000551634.6:c.1957A>G	ENSP00000448373.2:p.Thr653Ala
ENST00000680362.1:c.1848A>G
ENST00000681323.1:c.793+2674A>G
ENST00000346562.6:c.1852A>G	ENSP00000319610.5:p.Thr618Ala
ENST00000356141.8:c.1948A>G	ENSP00000348460.4:p.Thr650Ala
ENST00000357798.9:c.1909A>G	ENSP00000350446.5:p.Thr637Ala
ENST00000548645.5:c.1858A>G	ENSP00000448916.1:p.Thr620Ala
ENST00000551492.5:c.1963A>G	ENSP00000450392.1:p.Thr655Ala
ENST00000551634.5:c.1870A>G	ENSP00000448373.1:p.Thr624Ala
NM_001164749.1:c.1948A>G	NP_001158221.1:p.Thr650Ala
NM_001165893.1:c.1858A>G	NP_001159365.1:p.Thr620Ala
NM_022123.2:c.1852A>G	NP_071406.1:p.Thr618Ala
NM_173159.2:c.1909A>G	NP_775182.1:p.Thr637Ala
XM_005267991.2:c.1969A>G	XP_005268048.1:p.Thr657Ala
XM_005267992.2:c.1963A>G	XP_005268049.1:p.Thr655Ala
XM_005267993.2:c.1909A>G	XP_005268050.1:p.Thr637Ala
XM_011537067.1:c.1999A>G	XP_011535369.1:p.Thr667Ala
XM_011537068.1:c.1990A>G	XP_011535370.1:p.Thr664Ala
XM_011537069.1:c.1960A>G	XP_011535371.1:p.Thr654Ala
XM_011537070.1:c.1903A>G	XP_011535372.1:p.Thr635Ala
XM_011537071.1:c.1870A>G	XP_011535373.1:p.Thr624Ala
XM_011537072.1:c.1849A>G	XP_011535374.1:p.Thr617Ala
XM_011537073.1:c.1642A>G	XP_011535375.1:p.Thr548Ala
XM_011537074.1:c.1642A>G	XP_011535376.1:p.Thr548Ala
XM_005267991.3:c.2056A>G	XP_005268048.2:p.Thr686Ala
XM_005267992.3:c.2050A>G	XP_005268049.2:p.Thr684Ala
XM_011537067.2:c.1999A>G	XP_011535369.1:p.Thr667Ala
XM_011537069.2:c.2047A>G	XP_011535371.2:p.Thr683Ala
XM_011537070.2:c.1903A>G	XP_011535372.1:p.Thr635Ala
XM_011537071.2:c.1957A>G	XP_011535373.2:p.Thr653Ala
XM_011537072.2:c.1849A>G	XP_011535374.1:p.Thr617Ala
XM_017021582.1:c.2107A>G	XP_016877071.1:p.Thr703Ala
XM_017021583.1:c.2098A>G	XP_016877072.1:p.Thr700Ala
XM_017021584.1:c.2017A>G	XP_016877073.1:p.Thr673Ala
XM_017021585.1:c.1966A>G	XP_016877074.1:p.Thr656Ala
XM_017021586.1:c.1642A>G	XP_016877075.1:p.Thr548Ala
XM_017021587.1:c.1642A>G	XP_016877076.1:p.Thr548Ala
XM_017021588.1:c.1642A>G	XP_016877077.1:p.Thr548Ala
NM_001164749.2:c.1948A>G MANE Select	NP_001158221.1:p.Thr650Ala
NM_001165893.2:c.1858A>G	NP_001159365.1:p.Thr620Ala
NM_022123.3:c.1852A>G	NP_071406.1:p.Thr618Ala
NM_173159.3:c.1909A>G	NP_775182.1:p.Thr637Ala
NM_001394988.1:c.1903A>G	NP_001381917.1:p.Thr635Ala
NM_001394989.1:c.1849A>G	NP_001381918.1:p.Thr617Ala