Canonical Allele Identifier: CA393756905

Gene: POLG

Linked Data

• gnomAD v4: 15-89323496-G-A
• MyVariant Identifiers: chr15:g.89866727G>A (hg19) ; chr15:g.89323496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323496G>A , CM000677.2:g.89323496G>A	GRCh38
NC_000015.9:g.89866727G>A , CM000677.1:g.89866727G>A	GRCh37
NC_000015.8:g.87667731G>A	NCBI36
NG_008218.1:g.16300C>T
NG_008218.2:g.16300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2173C>T	ENSP00000516154.1:p.Pro725Ser
ENST00000268124.11:c.2173C>T MANE Select	ENSP00000268124.5:p.Pro725Ser
ENST00000530292.3:c.1774C>T	ENSP00000432885.2:p.Pro592Ser
ENST00000635986.2:c.2173C>T	ENSP00000490653.2:p.Pro725Ser
ENST00000636774.1:c.*740C>T	ENSP00000489799.1:n.*740C>T
ENST00000637238.1:c.870C>T	ENSP00000490756.1:n.870C>T
ENST00000637264.1:c.1245C>T
ENST00000666746.1:c.1750C>T
ENST00000670281.1:c.493C>T	ENSP00000499709.1:p.Pro165Ser
ENST00000672071.1:n.2371C>T
ENST00000672923.2:n.2276C>T
ENST00000268124.9:c.2173C>T	ENSP00000268124.5:p.Pro725Ser
ENST00000442287.6:c.2173C>T	ENSP00000399851.2:p.Pro725Ser
ENST00000526314.2:c.539+319C>T
ENST00000526398.1:c.322C>T
ENST00000532584.5:n.375C>T
ENST00000631044.2:c.*1597C>T	ENSP00000486730.1:n.*1597C>T
NM_001126131.1:c.2173C>T	NP_001119603.1:p.Pro725Ser
NM_002693.2:c.2173C>T	NP_002684.1:p.Pro725Ser
NM_001126131.2:c.2173C>T	NP_001119603.1:p.Pro725Ser
NM_002693.3:c.2173C>T MANE Select	NP_002684.1:p.Pro725Ser