Canonical Allele Identifier: CA393747908

Gene: POLG

Linked Data

• gnomAD v4: 15-89317499-G-A
• MyVariant Identifiers: chr15:g.89860730G>A (hg19) ; chr15:g.89317499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317499G>A , CM000677.2:g.89317499G>A	GRCh38
NC_000015.9:g.89860730G>A , CM000677.1:g.89860730G>A	GRCh37
NC_000015.8:g.87661734G>A	NCBI36
NG_008218.1:g.22297C>T
NG_011736.1:g.78537G>A , LRG_500:g.78537G>A
NG_008218.2:g.22297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3520C>T	ENSP00000516154.1:p.Pro1174Ser
ENST00000268124.11:c.3520C>T MANE Select	ENSP00000268124.5:p.Pro1174Ser
ENST00000530292.3:c.3220C>T	ENSP00000432885.2:n.3220C>T
ENST00000635986.2:c.*590C>T	ENSP00000490653.2:n.*590C>T
ENST00000636774.1:c.*2124C>T	ENSP00000489799.1:n.*2124C>T
ENST00000637042.1:n.72-28C>T
ENST00000637238.1:c.2428C>T	ENSP00000490756.1:n.2428C>T
ENST00000637264.1:c.2555-23C>T
ENST00000666746.1:c.3097C>T
ENST00000672071.1:n.4722C>T
ENST00000672695.1:n.1299C>T
ENST00000672923.2:n.3520C>T
ENST00000268124.9:c.3520C>T	ENSP00000268124.5:p.Pro1174Ser
ENST00000442287.6:c.3520C>T	ENSP00000399851.2:p.Pro1174Ser
ENST00000526671.1:n.330C>T
ENST00000530292.2:c.703C>T	ENSP00000432885.1:n.703C>T
ENST00000631044.2:c.*2944C>T	ENSP00000486730.1:n.*2944C>T
NM_001126131.1:c.3520C>T	NP_001119603.1:p.Pro1174Ser
NM_002693.2:c.3520C>T	NP_002684.1:p.Pro1174Ser
NM_001126131.2:c.3520C>T	NP_001119603.1:p.Pro1174Ser
NM_002693.3:c.3520C>T MANE Select	NP_002684.1:p.Pro1174Ser