Canonical Allele Identifier: CA366529571

Gene: DNAAF5 PRKAR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.726731T>C , CM000669.2:g.726731T>C	GRCh38
NC_000007.13:g.766368T>C , CM000669.1:g.766368T>C	GRCh37
NC_000007.12:g.732894T>C	NCBI36
NG_033137.1:g.5031T>C
NG_042811.1:g.5946A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001164760.2:c.-23+479A>G (PRKAR1B) MANE Select	NP_001158232.1:n.-23+479A>G
NM_017802.4:c.11T>C (DNAAF5) MANE Select	NP_060272.3:p.Leu4Pro
ENST00000297440.11:c.11T>C (DNAAF5) MANE Select	ENSP00000297440.6:p.Leu4Pro
ENST00000537384.6:c.-23+479A>G (PRKAR1B) MANE Select	ENSP00000440449.1:n.-23+479A>G
NM_001164758.1:c.-23+859A>G (PRKAR1B)	NP_001158230.1:n.-23+859A>G
NM_001164758.2:c.-23+859A>G (PRKAR1B)	NP_001158230.1:n.-23+859A>G
NM_001164759.1:c.-23+924A>G (PRKAR1B)	NP_001158231.1:n.-23+924A>G
NM_001164760.1:c.-23+479A>G (PRKAR1B)	NP_001158232.1:n.-23+479A>G
NM_017802.3:c.11T>C (DNAAF5)	NP_060272.3:p.Leu4Pro
NR_075098.1:n.31T>C (DNAAF5)
NR_075098.2:n.33T>C (DNAAF5)
ENST00000297440.10:c.11T>C (DNAAF5)	ENSP00000297440.6:p.Leu4Pro
ENST00000403562.5:c.-23+859A>G (PRKAR1B)	ENSP00000385349.1:n.-23+859A>G
ENST00000417852.5:c.-23+479A>G (PRKAR1B)	ENSP00000406670.1:n.-23+479A>G
ENST00000478198.1:n.247A>G (PRKAR1B)
ENST00000488474.1:n.28+479A>G (PRKAR1B)
ENST00000537384.5:c.-23+479A>G (PRKAR1B)	ENSP00000440449.1:n.-23+479A>G
XM_024446813.1:c.11T>C (DNAAF5)	XP_024302581.1:p.Leu4Pro