Canonical Allele Identifier: CA393759182

Gene: POLG

Linked Data

• gnomAD v4: 15-89325526-G-A
• MyVariant Identifiers: chr15:g.89868757G>A (hg19) ; chr15:g.89325526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325526G>A , CM000677.2:g.89325526G>A	GRCh38
NC_000015.9:g.89868757G>A , CM000677.1:g.89868757G>A	GRCh37
NC_000015.8:g.87669761G>A	NCBI36
NG_008218.1:g.14270C>T
NG_008218.2:g.14270C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1873C>T	ENSP00000516154.1:p.Pro625Ser
ENST00000268124.11:c.1873C>T MANE Select	ENSP00000268124.5:p.Pro625Ser
ENST00000530292.3:c.1474C>T	ENSP00000432885.2:p.Pro492Ser
ENST00000635986.2:c.1873C>T	ENSP00000490653.2:p.Pro625Ser
ENST00000636774.1:c.*440C>T	ENSP00000489799.1:n.*440C>T
ENST00000637238.1:c.610C>T	ENSP00000490756.1:p.Pro204Ser
ENST00000637264.1:c.945C>T
ENST00000666746.1:c.1450C>T
ENST00000670281.1:c.193C>T	ENSP00000499709.1:p.Pro65Ser
ENST00000672071.1:n.2071C>T
ENST00000672923.2:n.1976C>T
ENST00000268124.9:c.1873C>T	ENSP00000268124.5:p.Pro625Ser
ENST00000442287.6:c.1873C>T	ENSP00000399851.2:p.Pro625Ser
ENST00000526314.2:c.255C>T
ENST00000526398.1:c.62C>T
ENST00000532584.5:n.75C>T
ENST00000631044.2:c.*1256C>T	ENSP00000486730.1:n.*1256C>T
NM_001126131.1:c.1873C>T	NP_001119603.1:p.Pro625Ser
NM_002693.2:c.1873C>T	NP_002684.1:p.Pro625Ser
NM_001126131.2:c.1873C>T	NP_001119603.1:p.Pro625Ser
NM_002693.3:c.1873C>T MANE Select	NP_002684.1:p.Pro625Ser