Canonical Allele Identifier: CA152353536

Gene: DNAAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.774434C>T , CM000669.2:g.774434C>T	GRCh38
NC_000007.13:g.814071C>T , CM000669.1:g.814071C>T	GRCh37
NC_000007.12:g.780597C>T	NCBI36
NG_033137.1:g.52734C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017802.4:c.2082+236C>T MANE Select	NP_060272.3:n.2082+236C>T
ENST00000297440.11:c.2082+236C>T MANE Select	ENSP00000297440.6:n.2082+236C>T
NM_017802.3:c.2082+236C>T	NP_060272.3:n.2082+236C>T
NR_075098.1:n.2040+236C>T
NR_075098.2:n.2042+236C>T
ENST00000297440.10:c.2082+236C>T	ENSP00000297440.6:n.2082+236C>T
ENST00000403952.3:c.357+236C>T	ENSP00000384884.3:n.357+236C>T
ENST00000440747.5:c.1486+236C>T
XM_024446813.1:c.2082+236C>T	XP_024302581.1:n.2082+236C>T
XM_024446814.1:c.1476+236C>T	XP_024302582.1:n.1476+236C>T