Canonical Allele Identifier: CA393747438

Gene: POLG

Linked Data

• dbSNP Id: rs748823785
• gnomAD v2: 15-89860669-G-T
• gnomAD v3: 15-89317438-G-T
• gnomAD v4: 15-89317438-G-T
• MyVariant Identifiers: chr15:g.89860669G>T (hg19) ; chr15:g.89317438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317438G>T , CM000677.2:g.89317438G>T	GRCh38
NC_000015.9:g.89860669G>T , CM000677.1:g.89860669G>T	GRCh37
NC_000015.8:g.87661673G>T	NCBI36
NG_008218.1:g.22358C>A
NG_011736.1:g.78476G>T , LRG_500:g.78476G>T
NG_008218.2:g.22358C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3581C>A	ENSP00000516154.1:p.Thr1194Asn
ENST00000268124.11:c.3581C>A MANE Select	ENSP00000268124.5:p.Thr1194Asn
ENST00000530292.3:c.3281C>A	ENSP00000432885.2:n.3281C>A
ENST00000635986.2:c.*651C>A	ENSP00000490653.2:n.*651C>A
ENST00000636774.1:c.*2185C>A	ENSP00000489799.1:n.*2185C>A
ENST00000637238.1:c.2489C>A	ENSP00000490756.1:n.2489C>A
ENST00000637264.1:c.2593C>A
ENST00000666746.1:c.3158C>A
ENST00000672071.1:n.4783C>A
ENST00000672695.1:n.1360C>A
ENST00000672923.2:n.3581C>A
ENST00000268124.9:c.3581C>A	ENSP00000268124.5:p.Thr1194Asn
ENST00000442287.6:c.3581C>A	ENSP00000399851.2:p.Thr1194Asn
ENST00000526671.1:n.391C>A
ENST00000530292.2:c.764C>A	ENSP00000432885.1:n.764C>A
ENST00000631044.2:c.*3005C>A	ENSP00000486730.1:n.*3005C>A
NM_001126131.1:c.3581C>A	NP_001119603.1:p.Thr1194Asn
NM_002693.2:c.3581C>A	NP_002684.1:p.Thr1194Asn
NM_001126131.2:c.3581C>A	NP_001119603.1:p.Thr1194Asn
NM_002693.3:c.3581C>A MANE Select	NP_002684.1:p.Thr1194Asn