Canonical Allele Identifier: CA349398888

Gene: PRKRA CHROMR

Linked Data

• dbSNP Id: rs1473685226
• gnomAD v2: 2-179296913-G-T
• gnomAD v4: 2-178432186-G-T
• MyVariant Identifiers: chr2:g.179296913G>T (hg19) ; chr2:g.178432186G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178432186G>T , CM000664.2:g.178432186G>T	GRCh38
NC_000002.11:g.179296913G>T , CM000664.1:g.179296913G>T	GRCh37
NC_000002.10:g.179005159G>T	NCBI36
NG_009053.1:g.24046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325748.9:c.853C>A (PRKRA) MANE Select	ENSP00000318176.4:p.His285Asn
ENST00000448279.2:c.*581C>A (PRKRA)	ENSP00000388455.1:n.*581C>A
ENST00000457633.2:c.*357C>A (PRKRA)	ENSP00000408668.2:n.*357C>A
ENST00000474793.6:n.994C>A (PRKRA)
ENST00000676505.1:c.*613C>A (PRKRA)	ENSP00000504163.1:n.*613C>A
ENST00000676586.1:n.2990C>A (PRKRA)
ENST00000676752.1:n.2752C>A (PRKRA)
ENST00000676832.1:c.*674C>A (PRKRA)	ENSP00000503231.1:n.*674C>A
ENST00000676922.1:c.*581C>A (PRKRA)	ENSP00000503369.1:n.*581C>A
ENST00000677136.1:n.2845C>A (PRKRA)
ENST00000677206.1:c.*645C>A (PRKRA)	ENSP00000503034.1:n.*645C>A
ENST00000677253.1:c.*550C>A (PRKRA)	ENSP00000503466.1:n.*550C>A
ENST00000677386.1:c.*296C>A (PRKRA)	ENSP00000503003.1:n.*296C>A
ENST00000677460.1:c.*182C>A (PRKRA)	ENSP00000504507.1:n.*182C>A
ENST00000677584.1:c.*691C>A (PRKRA)	ENSP00000504411.1:n.*691C>A
ENST00000677689.1:c.598C>A (PRKRA)	ENSP00000502919.1:p.His200Asn
ENST00000677859.1:c.706C>A (PRKRA)
ENST00000677981.1:c.601C>A (PRKRA)	ENSP00000503536.1:p.His201Asn
ENST00000678053.1:c.*613C>A (PRKRA)	ENSP00000504330.1:n.*613C>A
ENST00000678058.1:c.597C>A (PRKRA)	ENSP00000503203.1:n.597C>A
ENST00000678167.1:c.*407C>A (PRKRA)	ENSP00000504479.1:n.*407C>A
ENST00000678775.1:c.514C>A (PRKRA)	ENSP00000504030.1:p.His172Asn
ENST00000678845.1:c.514C>A (PRKRA)	ENSP00000503011.1:p.His172Asn
ENST00000679037.1:c.*521C>A (PRKRA)	ENSP00000504421.1:n.*521C>A
ENST00000679202.1:n.1940C>A (PRKRA)
ENST00000325748.8:c.853C>A (PRKRA)	ENSP00000318176.4:p.His285Asn
ENST00000424699.5:c.*645C>A (PRKRA)	ENSP00000408029.1:n.*645C>A
ENST00000432031.6:c.820C>A (PRKRA)	ENSP00000393883.2:p.His274Asn
ENST00000487082.5:c.778C>A (PRKRA)	ENSP00000430604.1:p.His260Asn
ENST00000490501.5:n.1080C>A (PRKRA)
NM_001139517.1:c.820C>A (PRKRA)	NP_001132989.1:p.His274Asn
NM_001139518.1:c.778C>A (PRKRA)	NP_001132990.1:p.His260Asn
NM_001316362.1:c.514C>A (PRKRA)	NP_001303291.1:p.His172Asn
NM_003690.4:c.853C>A (PRKRA)	NP_003681.1:p.His285Asn
NR_110204.1:n.872-1196G>T (CHROMR)
NR_110205.1:n.716-1196G>T (CHROMR)
NR_110206.1:n.651-1196G>T (CHROMR)
XM_005246921.3:c.514C>A (PRKRA)	XP_005246978.1:p.His172Asn
XM_011512063.1:c.598C>A (PRKRA)	XP_011510365.1:p.His200Asn
XM_011512064.1:c.598C>A (PRKRA)	XP_011510366.1:p.His200Asn
XM_011512066.1:c.514C>A (PRKRA)	XP_011510368.1:p.His172Asn
XM_011512063.2:c.598C>A (PRKRA)	XP_011510365.1:p.His200Asn
XM_011512066.2:c.514C>A (PRKRA)	XP_011510368.1:p.His172Asn
XM_017005159.1:c.514C>A (PRKRA)	XP_016860648.1:p.His172Asn
XR_001739008.2:n.894C>A (PRKRA)
NM_003690.5:c.853C>A (PRKRA) MANE Select	NP_003681.1:p.His285Asn
NM_001316362.2:c.514C>A (PRKRA)	NP_001303291.1:p.His172Asn