Canonical Allele Identifier: CA7724785

Gene: POLG

Linked Data

• dbSNP Id: rs377462878
• ExAC: 15:89870095 C / G
• gnomAD v2: 15-89870095-C-G
• gnomAD v3: 15-89326864-C-G
• gnomAD v4: 15-89326864-C-G
• MyVariant Identifiers: chr15:g.89870095C>G (hg19) ; chr15:g.89326864C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326864C>G , CM000677.2:g.89326864C>G	GRCh38
NC_000015.9:g.89870095C>G , CM000677.1:g.89870095C>G	GRCh37
NC_000015.8:g.87671099C>G	NCBI36
NG_008218.1:g.12932G>C
NG_008218.2:g.12932G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1585+48G>C	ENSP00000516154.1:n.1585+48G>C
ENST00000268124.11:c.1585+48G>C MANE Select	ENSP00000268124.5:n.1585+48G>C
ENST00000530292.3:c.1186+48G>C	ENSP00000432885.2:n.1186+48G>C
ENST00000635986.2:c.1585+48G>C	ENSP00000490653.2:n.1585+48G>C
ENST00000636774.1:c.*152+48G>C	ENSP00000489799.1:n.*152+48G>C
ENST00000637238.1:c.322+48G>C	ENSP00000490756.1:n.322+48G>C
ENST00000637264.1:c.657+48G>C
ENST00000666746.1:c.1162+48G>C
ENST00000672071.1:n.1783+48G>C
ENST00000672923.2:n.1688+48G>C
ENST00000268124.9:c.1585+48G>C	ENSP00000268124.5:n.1585+48G>C
ENST00000442287.6:c.1585+48G>C	ENSP00000399851.2:n.1585+48G>C
ENST00000631044.2:c.*968+48G>C	ENSP00000486730.1:n.*968+48G>C
NM_001126131.1:c.1585+48G>C	NP_001119603.1:n.1585+48G>C
NM_002693.2:c.1585+48G>C	NP_002684.1:n.1585+48G>C
NM_001126131.2:c.1585+48G>C	NP_001119603.1:n.1585+48G>C
NM_002693.3:c.1585+48G>C MANE Select	NP_002684.1:n.1585+48G>C