Canonical Allele Identifier: CA619857712

Gene: POLG

Linked Data

• ClinVar Variation Id: 1594772
• ClinVar RCV Id: RCV002108069
• dbSNP Id: rs1274510765
• gnomAD v2: 15-89872163-T-C
• gnomAD v3: 15-89328932-T-C
• gnomAD v4: 15-89328932-T-C
• MyVariant Identifiers: chr15:g.89872163T>C (hg19) ; chr15:g.89328932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328932T>C , CM000677.2:g.89328932T>C	GRCh38
NC_000015.9:g.89872163T>C , CM000677.1:g.89872163T>C	GRCh37
NC_000015.8:g.87673167T>C	NCBI36
NG_008218.1:g.10864A>G
NG_008218.2:g.10864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1023+11A>G	ENSP00000516154.1:n.1023+11A>G
ENST00000268124.11:c.1023+11A>G MANE Select	ENSP00000268124.5:n.1023+11A>G
ENST00000530292.3:c.624+11A>G	ENSP00000432885.2:n.624+11A>G
ENST00000635986.2:c.1023+11A>G	ENSP00000490653.2:n.1023+11A>G
ENST00000636774.1:c.1023+11A>G	ENSP00000489799.1:n.1023+11A>G
ENST00000637264.1:c.95+11A>G
ENST00000666746.1:c.680+11A>G
ENST00000672071.1:n.1221+11A>G
ENST00000672923.2:n.20+11A>G
ENST00000268124.9:c.1023+11A>G	ENSP00000268124.5:n.1023+11A>G
ENST00000442287.6:c.1023+11A>G	ENSP00000399851.2:n.1023+11A>G
ENST00000631044.2:c.*406+11A>G	ENSP00000486730.1:n.*406+11A>G
NM_001126131.1:c.1023+11A>G	NP_001119603.1:n.1023+11A>G
NM_002693.2:c.1023+11A>G	NP_002684.1:n.1023+11A>G
NM_001126131.2:c.1023+11A>G	NP_001119603.1:n.1023+11A>G
NM_002693.3:c.1023+11A>G MANE Select	NP_002684.1:n.1023+11A>G