Canonical Allele Identifier: CA393758976

Gene: POLG

Linked Data

• dbSNP Id: rs1399714899
• gnomAD v4: 15-89325468-C-G
• MyVariant Identifiers: chr15:g.89868699C>G (hg19) ; chr15:g.89325468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325468C>G , CM000677.2:g.89325468C>G	GRCh38
NC_000015.9:g.89868699C>G , CM000677.1:g.89868699C>G	GRCh37
NC_000015.8:g.87669703C>G	NCBI36
NG_008218.1:g.14328G>C
NG_008218.2:g.14328G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1931G>C	ENSP00000516154.1:p.Gly644Ala
ENST00000268124.11:c.1931G>C MANE Select	ENSP00000268124.5:p.Gly644Ala
ENST00000530292.3:c.1532G>C	ENSP00000432885.2:p.Gly511Ala
ENST00000635986.2:c.1931G>C	ENSP00000490653.2:p.Gly644Ala
ENST00000636774.1:c.*498G>C	ENSP00000489799.1:n.*498G>C
ENST00000637238.1:c.646+22G>C	ENSP00000490756.1:n.646+22G>C
ENST00000637264.1:c.1003G>C
ENST00000666746.1:c.1508G>C
ENST00000670281.1:c.251G>C	ENSP00000499709.1:p.Gly84Ala
ENST00000672071.1:n.2129G>C
ENST00000672923.2:n.2034G>C
ENST00000268124.9:c.1931G>C	ENSP00000268124.5:p.Gly644Ala
ENST00000442287.6:c.1931G>C	ENSP00000399851.2:p.Gly644Ala
ENST00000526314.2:c.313G>C
ENST00000526398.1:c.120G>C
ENST00000526573.1:n.17G>C
ENST00000532584.5:n.133G>C
ENST00000631044.2:c.*1314G>C	ENSP00000486730.1:n.*1314G>C
NM_001126131.1:c.1931G>C	NP_001119603.1:p.Gly644Ala
NM_002693.2:c.1931G>C	NP_002684.1:p.Gly644Ala
NM_001126131.2:c.1931G>C	NP_001119603.1:p.Gly644Ala
NM_002693.3:c.1931G>C MANE Select	NP_002684.1:p.Gly644Ala