Canonical Allele Identifier: CA349399499

Gene: PRKRA CHROMR

Linked Data

• gnomAD v4: 2-178432251-T-G
• MyVariant Identifiers: chr2:g.179296978T>G (hg19) ; chr2:g.178432251T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178432251T>G , CM000664.2:g.178432251T>G	GRCh38
NC_000002.11:g.179296978T>G , CM000664.1:g.179296978T>G	GRCh37
NC_000002.10:g.179005224T>G	NCBI36
NG_009053.1:g.23981A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325748.9:c.788A>C (PRKRA) MANE Select	ENSP00000318176.4:p.Glu263Ala
ENST00000448279.2:c.*516A>C (PRKRA)	ENSP00000388455.1:n.*516A>C
ENST00000457633.2:c.*292A>C (PRKRA)	ENSP00000408668.2:n.*292A>C
ENST00000474793.6:n.929A>C (PRKRA)
ENST00000676505.1:c.*548A>C (PRKRA)	ENSP00000504163.1:n.*548A>C
ENST00000676586.1:n.2925A>C (PRKRA)
ENST00000676752.1:n.2687A>C (PRKRA)
ENST00000676832.1:c.*609A>C (PRKRA)	ENSP00000503231.1:n.*609A>C
ENST00000676922.1:c.*516A>C (PRKRA)	ENSP00000503369.1:n.*516A>C
ENST00000677136.1:n.2780A>C (PRKRA)
ENST00000677206.1:c.*580A>C (PRKRA)	ENSP00000503034.1:n.*580A>C
ENST00000677253.1:c.*485A>C (PRKRA)	ENSP00000503466.1:n.*485A>C
ENST00000677386.1:c.*231A>C (PRKRA)	ENSP00000503003.1:n.*231A>C
ENST00000677460.1:c.*117A>C (PRKRA)	ENSP00000504507.1:n.*117A>C
ENST00000677584.1:c.*626A>C (PRKRA)	ENSP00000504411.1:n.*626A>C
ENST00000677689.1:c.533A>C (PRKRA)	ENSP00000502919.1:p.Glu178Ala
ENST00000677859.1:c.641A>C (PRKRA)
ENST00000677981.1:c.536A>C (PRKRA)	ENSP00000503536.1:p.Glu179Ala
ENST00000678053.1:c.*548A>C (PRKRA)	ENSP00000504330.1:n.*548A>C
ENST00000678058.1:c.532A>C (PRKRA)	ENSP00000503203.1:n.532A>C
ENST00000678167.1:c.*342A>C (PRKRA)	ENSP00000504479.1:n.*342A>C
ENST00000678775.1:c.449A>C (PRKRA)	ENSP00000504030.1:p.Glu150Ala
ENST00000678845.1:c.449A>C (PRKRA)	ENSP00000503011.1:p.Glu150Ala
ENST00000679037.1:c.*456A>C (PRKRA)	ENSP00000504421.1:n.*456A>C
ENST00000679202.1:n.1875A>C (PRKRA)
ENST00000325748.8:c.788A>C (PRKRA)	ENSP00000318176.4:p.Glu263Ala
ENST00000424699.5:c.*580A>C (PRKRA)	ENSP00000408029.1:n.*580A>C
ENST00000432031.6:c.755A>C (PRKRA)	ENSP00000393883.2:p.Glu252Ala
ENST00000487082.5:c.713A>C (PRKRA)	ENSP00000430604.1:p.Glu238Ala
ENST00000490501.5:n.1015A>C (PRKRA)
NM_001139517.1:c.755A>C (PRKRA)	NP_001132989.1:p.Glu252Ala
NM_001139518.1:c.713A>C (PRKRA)	NP_001132990.1:p.Glu238Ala
NM_001316362.1:c.449A>C (PRKRA)	NP_001303291.1:p.Glu150Ala
NM_003690.4:c.788A>C (PRKRA)	NP_003681.1:p.Glu263Ala
NR_110204.1:n.872-1131T>G (CHROMR)
NR_110205.1:n.716-1131T>G (CHROMR)
NR_110206.1:n.651-1131T>G (CHROMR)
XM_005246921.3:c.449A>C (PRKRA)	XP_005246978.1:p.Glu150Ala
XM_011512063.1:c.533A>C (PRKRA)	XP_011510365.1:p.Glu178Ala
XM_011512064.1:c.533A>C (PRKRA)	XP_011510366.1:p.Glu178Ala
XM_011512066.1:c.449A>C (PRKRA)	XP_011510368.1:p.Glu150Ala
XM_011512063.2:c.533A>C (PRKRA)	XP_011510365.1:p.Glu178Ala
XM_011512066.2:c.449A>C (PRKRA)	XP_011510368.1:p.Glu150Ala
XM_017005159.1:c.449A>C (PRKRA)	XP_016860648.1:p.Glu150Ala
XR_001739008.2:n.829A>C (PRKRA)
NM_003690.5:c.788A>C (PRKRA) MANE Select	NP_003681.1:p.Glu263Ala
NM_001316362.2:c.449A>C (PRKRA)	NP_001303291.1:p.Glu150Ala