Canonical Allele Identifier: CA619511615

Gene: POLG

Linked Data

• dbSNP Id: rs1426383162
• gnomAD v2: 15-89861540-A-G
• gnomAD v3: 15-89318309-A-G
• gnomAD v4: 15-89318309-A-G
• MyVariant Identifiers: chr15:g.89861540A>G (hg19) ; chr15:g.89318309A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318309A>G , CM000677.2:g.89318309A>G	GRCh38
NC_000015.9:g.89861540A>G , CM000677.1:g.89861540A>G	GRCh37
NC_000015.8:g.87662544A>G	NCBI36
NG_008218.1:g.21487T>C
NG_011736.1:g.79347A>G , LRG_500:g.79347A>G
NG_008218.2:g.21487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+232T>C	ENSP00000516154.1:n.3482+232T>C
ENST00000268124.11:c.3482+232T>C MANE Select	ENSP00000268124.5:n.3482+232T>C
ENST00000530292.3:c.3083+232T>C	ENSP00000432885.2:n.3083+232T>C
ENST00000635986.2:c.*552+232T>C	ENSP00000490653.2:n.*552+232T>C
ENST00000636774.1:c.*2049+232T>C	ENSP00000489799.1:n.*2049+232T>C
ENST00000637238.1:c.2291+232T>C	ENSP00000490756.1:n.2291+232T>C
ENST00000637264.1:c.2554+232T>C
ENST00000666746.1:c.3059+232T>C
ENST00000672071.1:n.3912T>C
ENST00000672695.1:n.891T>C
ENST00000672923.2:n.3482+232T>C
ENST00000268124.9:c.3482+232T>C	ENSP00000268124.5:n.3482+232T>C
ENST00000442287.6:c.3482+232T>C	ENSP00000399851.2:n.3482+232T>C
ENST00000530292.2:c.566+232T>C	ENSP00000432885.1:n.566+232T>C
ENST00000631044.2:c.*2906+232T>C	ENSP00000486730.1:n.*2906+232T>C
NM_001126131.1:c.3482+232T>C	NP_001119603.1:n.3482+232T>C
NM_002693.2:c.3482+232T>C	NP_002684.1:n.3482+232T>C
NM_001126131.2:c.3482+232T>C	NP_001119603.1:n.3482+232T>C
NM_002693.3:c.3482+232T>C MANE Select	NP_002684.1:n.3482+232T>C