Canonical Allele Identifier: CA349399053

Gene: PRKRA CHROMR

Linked Data

• gnomAD v4: 2-178432203-C-T
• MyVariant Identifiers: chr2:g.179296930C>T (hg19) ; chr2:g.178432203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178432203C>T , CM000664.2:g.178432203C>T	GRCh38
NC_000002.11:g.179296930C>T , CM000664.1:g.179296930C>T	GRCh37
NC_000002.10:g.179005176C>T	NCBI36
NG_009053.1:g.24029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325748.9:c.836G>A (PRKRA) MANE Select	ENSP00000318176.4:p.Ser279Asn
ENST00000448279.2:c.*564G>A (PRKRA)	ENSP00000388455.1:n.*564G>A
ENST00000457633.2:c.*340G>A (PRKRA)	ENSP00000408668.2:n.*340G>A
ENST00000474793.6:n.977G>A (PRKRA)
ENST00000676505.1:c.*596G>A (PRKRA)	ENSP00000504163.1:n.*596G>A
ENST00000676586.1:n.2973G>A (PRKRA)
ENST00000676752.1:n.2735G>A (PRKRA)
ENST00000676832.1:c.*657G>A (PRKRA)	ENSP00000503231.1:n.*657G>A
ENST00000676922.1:c.*564G>A (PRKRA)	ENSP00000503369.1:n.*564G>A
ENST00000677136.1:n.2828G>A (PRKRA)
ENST00000677206.1:c.*628G>A (PRKRA)	ENSP00000503034.1:n.*628G>A
ENST00000677253.1:c.*533G>A (PRKRA)	ENSP00000503466.1:n.*533G>A
ENST00000677386.1:c.*279G>A (PRKRA)	ENSP00000503003.1:n.*279G>A
ENST00000677460.1:c.*165G>A (PRKRA)	ENSP00000504507.1:n.*165G>A
ENST00000677584.1:c.*674G>A (PRKRA)	ENSP00000504411.1:n.*674G>A
ENST00000677689.1:c.581G>A (PRKRA)	ENSP00000502919.1:p.Ser194Asn
ENST00000677859.1:c.689G>A (PRKRA)
ENST00000677981.1:c.584G>A (PRKRA)	ENSP00000503536.1:p.Ser195Asn
ENST00000678053.1:c.*596G>A (PRKRA)	ENSP00000504330.1:n.*596G>A
ENST00000678058.1:c.580G>A (PRKRA)	ENSP00000503203.1:n.580G>A
ENST00000678167.1:c.*390G>A (PRKRA)	ENSP00000504479.1:n.*390G>A
ENST00000678775.1:c.497G>A (PRKRA)	ENSP00000504030.1:p.Ser166Asn
ENST00000678845.1:c.497G>A (PRKRA)	ENSP00000503011.1:p.Ser166Asn
ENST00000679037.1:c.*504G>A (PRKRA)	ENSP00000504421.1:n.*504G>A
ENST00000679202.1:n.1923G>A (PRKRA)
ENST00000325748.8:c.836G>A (PRKRA)	ENSP00000318176.4:p.Ser279Asn
ENST00000424699.5:c.*628G>A (PRKRA)	ENSP00000408029.1:n.*628G>A
ENST00000432031.6:c.803G>A (PRKRA)	ENSP00000393883.2:p.Ser268Asn
ENST00000487082.5:c.761G>A (PRKRA)	ENSP00000430604.1:p.Ser254Asn
ENST00000490501.5:n.1063G>A (PRKRA)
NM_001139517.1:c.803G>A (PRKRA)	NP_001132989.1:p.Ser268Asn
NM_001139518.1:c.761G>A (PRKRA)	NP_001132990.1:p.Ser254Asn
NM_001316362.1:c.497G>A (PRKRA)	NP_001303291.1:p.Ser166Asn
NM_003690.4:c.836G>A (PRKRA)	NP_003681.1:p.Ser279Asn
NR_110204.1:n.872-1179C>T (CHROMR)
NR_110205.1:n.716-1179C>T (CHROMR)
NR_110206.1:n.651-1179C>T (CHROMR)
XM_005246921.3:c.497G>A (PRKRA)	XP_005246978.1:p.Ser166Asn
XM_011512063.1:c.581G>A (PRKRA)	XP_011510365.1:p.Ser194Asn
XM_011512064.1:c.581G>A (PRKRA)	XP_011510366.1:p.Ser194Asn
XM_011512066.1:c.497G>A (PRKRA)	XP_011510368.1:p.Ser166Asn
XM_011512063.2:c.581G>A (PRKRA)	XP_011510365.1:p.Ser194Asn
XM_011512066.2:c.497G>A (PRKRA)	XP_011510368.1:p.Ser166Asn
XM_017005159.1:c.497G>A (PRKRA)	XP_016860648.1:p.Ser166Asn
XR_001739008.2:n.877G>A (PRKRA)
NM_003690.5:c.836G>A (PRKRA) MANE Select	NP_003681.1:p.Ser279Asn
NM_001316362.2:c.497G>A (PRKRA)	NP_001303291.1:p.Ser166Asn