Canonical Allele Identifier: CA4110364

Gene: DNAAF5 PRKAR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.727345C>A , CM000669.2:g.727345C>A	GRCh38
NC_000007.13:g.766982C>A , CM000669.1:g.766982C>A	GRCh37
NC_000007.12:g.733508C>A	NCBI36
NG_033137.1:g.5645C>A
NG_042811.1:g.5332G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017802.4:c.595+30C>A (DNAAF5) MANE Select	NP_060272.3:n.595+30C>A
ENST00000297440.11:c.595+30C>A (DNAAF5) MANE Select	ENSP00000297440.6:n.595+30C>A
NM_001164758.1:c.-23+245G>T (PRKAR1B)	NP_001158230.1:n.-23+245G>T
NM_001164758.2:c.-23+245G>T (PRKAR1B)	NP_001158230.1:n.-23+245G>T
NM_001164759.1:c.-23+310G>T (PRKAR1B)	NP_001158231.1:n.-23+310G>T
NM_017802.3:c.595+30C>A (DNAAF5)	NP_060272.3:n.595+30C>A
NR_075098.1:n.615+30C>A (DNAAF5)
NR_075098.2:n.617+30C>A (DNAAF5)
ENST00000297440.10:c.595+30C>A (DNAAF5)	ENSP00000297440.6:n.595+30C>A
ENST00000403562.5:c.-23+245G>T (PRKAR1B)	ENSP00000385349.1:n.-23+245G>T
ENST00000437419.5:c.97+30C>A (DNAAF5)
ENST00000438961.1:n.64+30C>A (DNAAF5)
ENST00000440747.5:c.61+30C>A (DNAAF5)
XM_024446813.1:c.595+30C>A (DNAAF5)	XP_024302581.1:n.595+30C>A