Canonical Allele Identifier: CA393758963

Gene: POLG

Linked Data

• dbSNP Id: rs1596356847
• MyVariant Identifiers: chr15:g.89868696A>C (hg19) ; chr15:g.89325465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325465A>C , CM000677.2:g.89325465A>C	GRCh38
NC_000015.9:g.89868696A>C , CM000677.1:g.89868696A>C	GRCh37
NC_000015.8:g.87669700A>C	NCBI36
NG_008218.1:g.14331T>G
NG_008218.2:g.14331T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1934T>G	ENSP00000516154.1:p.Val645Gly
ENST00000268124.11:c.1934T>G MANE Select	ENSP00000268124.5:p.Val645Gly
ENST00000530292.3:c.1535T>G	ENSP00000432885.2:p.Val512Gly
ENST00000635986.2:c.1934T>G	ENSP00000490653.2:p.Val645Gly
ENST00000636774.1:c.*501T>G	ENSP00000489799.1:n.*501T>G
ENST00000637238.1:c.646+25T>G	ENSP00000490756.1:n.646+25T>G
ENST00000637264.1:c.1006T>G
ENST00000666746.1:c.1511T>G
ENST00000670281.1:c.254T>G	ENSP00000499709.1:p.Val85Gly
ENST00000672071.1:n.2132T>G
ENST00000672923.2:n.2037T>G
ENST00000268124.9:c.1934T>G	ENSP00000268124.5:p.Val645Gly
ENST00000442287.6:c.1934T>G	ENSP00000399851.2:p.Val645Gly
ENST00000526314.2:c.316T>G
ENST00000526398.1:c.123T>G
ENST00000526573.1:n.20T>G
ENST00000532584.5:n.136T>G
ENST00000631044.2:c.*1317T>G	ENSP00000486730.1:n.*1317T>G
NM_001126131.1:c.1934T>G	NP_001119603.1:p.Val645Gly
NM_002693.2:c.1934T>G	NP_002684.1:p.Val645Gly
NM_001126131.2:c.1934T>G	NP_001119603.1:p.Val645Gly
NM_002693.3:c.1934T>G MANE Select	NP_002684.1:p.Val645Gly