Canonical Allele Identifier: CA4110355

Gene: DNAAF5 PRKAR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.726941C>A , CM000669.2:g.726941C>A	GRCh38
NC_000007.13:g.766578C>A , CM000669.1:g.766578C>A	GRCh37
NC_000007.12:g.733104C>A	NCBI36
NG_033137.1:g.5241C>A
NG_042811.1:g.5736G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001164760.2:c.-23+269G>T (PRKAR1B) MANE Select	NP_001158232.1:n.-23+269G>T
NM_017802.4:c.221C>A (DNAAF5) MANE Select	NP_060272.3:p.Ala74Glu
ENST00000297440.11:c.221C>A (DNAAF5) MANE Select	ENSP00000297440.6:p.Ala74Glu
ENST00000537384.6:c.-23+269G>T (PRKAR1B) MANE Select	ENSP00000440449.1:n.-23+269G>T
NM_001164758.1:c.-23+649G>T (PRKAR1B)	NP_001158230.1:n.-23+649G>T
NM_001164758.2:c.-23+649G>T (PRKAR1B)	NP_001158230.1:n.-23+649G>T
NM_001164759.1:c.-23+714G>T (PRKAR1B)	NP_001158231.1:n.-23+714G>T
NM_001164760.1:c.-23+269G>T (PRKAR1B)	NP_001158232.1:n.-23+269G>T
NM_017802.3:c.221C>A (DNAAF5)	NP_060272.3:p.Ala74Glu
NR_075098.1:n.241C>A (DNAAF5)
NR_075098.2:n.243C>A (DNAAF5)
ENST00000297440.10:c.221C>A (DNAAF5)	ENSP00000297440.6:p.Ala74Glu
ENST00000403562.5:c.-23+649G>T (PRKAR1B)	ENSP00000385349.1:n.-23+649G>T
ENST00000417852.5:c.-23+269G>T (PRKAR1B)	ENSP00000406670.1:n.-23+269G>T
ENST00000478198.1:n.37G>T (PRKAR1B)
ENST00000488474.1:n.28+269G>T (PRKAR1B)
ENST00000537384.5:c.-23+269G>T (PRKAR1B)	ENSP00000440449.1:n.-23+269G>T
XM_024446813.1:c.221C>A (DNAAF5)	XP_024302581.1:p.Ala74Glu