Canonical Allele Identifier: CA10602325

Gene: POLG FANCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317196C>T , CM000677.2:g.89317196C>T	GRCh38
NC_000015.9:g.89860427C>T , CM000677.1:g.89860427C>T	GRCh37
NC_000015.8:g.87661431C>T	NCBI36
NG_008218.1:g.22600G>A
NG_011736.1:g.78234C>T , LRG_500:g.78234C>T
NG_008218.2:g.22600G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3643+180G>A (POLG) MANE Select	NP_002684.1:n.3643+180G>A
ENST00000268124.11:c.3643+180G>A (POLG) MANE Select	ENSP00000268124.5:n.3643+180G>A
NM_001126131.1:c.3643+180G>A (POLG)	NP_001119603.1:n.3643+180G>A
NM_001126131.2:c.3643+180G>A (POLG)	NP_001119603.1:n.3643+180G>A
NM_002693.2:c.3643+180G>A (POLG)	NP_002684.1:n.3643+180G>A
NM_018193.3:c.*737C>T (FANCI)	NP_060663.2:n.*737C>T
ENST00000268124.9:c.3643+180G>A (POLG)	ENSP00000268124.5:n.3643+180G>A
ENST00000300027.12:c.*737C>T (FANCI)	ENSP00000300027.8:n.*737C>T
ENST00000442287.6:c.3643+180G>A (POLG)	ENSP00000399851.2:n.3643+180G>A
ENST00000526671.1:n.453+180G>A (POLG)
ENST00000530292.2:c.826+180G>A (POLG)	ENSP00000432885.1:n.826+180G>A
ENST00000530292.3:c.3343+180G>A (POLG)	ENSP00000432885.2:n.3343+180G>A
ENST00000631044.2:c.*3067+180G>A (POLG)	ENSP00000486730.1:n.*3067+180G>A
ENST00000635986.2:c.*713+180G>A (POLG)	ENSP00000490653.2:n.*713+180G>A
ENST00000636774.1:c.*2247+180G>A (POLG)	ENSP00000489799.1:n.*2247+180G>A
ENST00000636937.2:c.3643+180G>A (POLG)	ENSP00000516154.1:n.3643+180G>A
ENST00000637238.1:c.2551+180G>A (POLG)	ENSP00000490756.1:n.2551+180G>A
ENST00000637264.1:c.2655+180G>A (POLG)
ENST00000666746.1:c.3220+180G>A (POLG)
ENST00000672071.1:n.4845+180G>A (POLG)
ENST00000672695.1:n.1422+180G>A (POLG)
ENST00000672923.2:n.3643+180G>A (POLG)