Canonical Allele Identifier: CA349398863

Gene: PRKRA CHROMR

Linked Data

• gnomAD v4: 2-178432184-A-C
• MyVariant Identifiers: chr2:g.179296911A>C (hg19) ; chr2:g.178432184A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178432184A>C , CM000664.2:g.178432184A>C	GRCh38
NC_000002.11:g.179296911A>C , CM000664.1:g.179296911A>C	GRCh37
NC_000002.10:g.179005157A>C	NCBI36
NG_009053.1:g.24048T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325748.9:c.855T>G (PRKRA) MANE Select	ENSP00000318176.4:p.His285Gln
ENST00000448279.2:c.*583T>G (PRKRA)	ENSP00000388455.1:n.*583T>G
ENST00000457633.2:c.*359T>G (PRKRA)	ENSP00000408668.2:n.*359T>G
ENST00000474793.6:n.996T>G (PRKRA)
ENST00000676505.1:c.*615T>G (PRKRA)	ENSP00000504163.1:n.*615T>G
ENST00000676586.1:n.2992T>G (PRKRA)
ENST00000676752.1:n.2754T>G (PRKRA)
ENST00000676832.1:c.*676T>G (PRKRA)	ENSP00000503231.1:n.*676T>G
ENST00000676922.1:c.*583T>G (PRKRA)	ENSP00000503369.1:n.*583T>G
ENST00000677136.1:n.2847T>G (PRKRA)
ENST00000677206.1:c.*647T>G (PRKRA)	ENSP00000503034.1:n.*647T>G
ENST00000677253.1:c.*552T>G (PRKRA)	ENSP00000503466.1:n.*552T>G
ENST00000677386.1:c.*298T>G (PRKRA)	ENSP00000503003.1:n.*298T>G
ENST00000677460.1:c.*184T>G (PRKRA)	ENSP00000504507.1:n.*184T>G
ENST00000677584.1:c.*693T>G (PRKRA)	ENSP00000504411.1:n.*693T>G
ENST00000677689.1:c.600T>G (PRKRA)	ENSP00000502919.1:p.His200Gln
ENST00000677859.1:c.708T>G (PRKRA)
ENST00000677981.1:c.603T>G (PRKRA)	ENSP00000503536.1:p.His201Gln
ENST00000678053.1:c.*615T>G (PRKRA)	ENSP00000504330.1:n.*615T>G
ENST00000678058.1:c.599T>G (PRKRA)	ENSP00000503203.1:n.599T>G
ENST00000678167.1:c.*409T>G (PRKRA)	ENSP00000504479.1:n.*409T>G
ENST00000678775.1:c.516T>G (PRKRA)	ENSP00000504030.1:p.His172Gln
ENST00000678845.1:c.516T>G (PRKRA)	ENSP00000503011.1:p.His172Gln
ENST00000679037.1:c.*523T>G (PRKRA)	ENSP00000504421.1:n.*523T>G
ENST00000679202.1:n.1942T>G (PRKRA)
ENST00000325748.8:c.855T>G (PRKRA)	ENSP00000318176.4:p.His285Gln
ENST00000424699.5:c.*647T>G (PRKRA)	ENSP00000408029.1:n.*647T>G
ENST00000432031.6:c.822T>G (PRKRA)	ENSP00000393883.2:p.His274Gln
ENST00000487082.5:c.780T>G (PRKRA)	ENSP00000430604.1:p.His260Gln
ENST00000490501.5:n.1082T>G (PRKRA)
NM_001139517.1:c.822T>G (PRKRA)	NP_001132989.1:p.His274Gln
NM_001139518.1:c.780T>G (PRKRA)	NP_001132990.1:p.His260Gln
NM_001316362.1:c.516T>G (PRKRA)	NP_001303291.1:p.His172Gln
NM_003690.4:c.855T>G (PRKRA)	NP_003681.1:p.His285Gln
NR_110204.1:n.872-1198A>C (CHROMR)
NR_110205.1:n.716-1198A>C (CHROMR)
NR_110206.1:n.651-1198A>C (CHROMR)
XM_005246921.3:c.516T>G (PRKRA)	XP_005246978.1:p.His172Gln
XM_011512063.1:c.600T>G (PRKRA)	XP_011510365.1:p.His200Gln
XM_011512064.1:c.600T>G (PRKRA)	XP_011510366.1:p.His200Gln
XM_011512066.1:c.516T>G (PRKRA)	XP_011510368.1:p.His172Gln
XM_011512063.2:c.600T>G (PRKRA)	XP_011510365.1:p.His200Gln
XM_011512066.2:c.516T>G (PRKRA)	XP_011510368.1:p.His172Gln
XM_017005159.1:c.516T>G (PRKRA)	XP_016860648.1:p.His172Gln
XR_001739008.2:n.896T>G (PRKRA)
NM_003690.5:c.855T>G (PRKRA) MANE Select	NP_003681.1:p.His285Gln
NM_001316362.2:c.516T>G (PRKRA)	NP_001303291.1:p.His172Gln