Canonical Allele Identifier: CA274566852

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 528383
• ClinVar RCV Id: RCV000633552
• dbSNP Id: rs201786897
• gnomAD v2: 15-89876985-T-C
• gnomAD v3: 15-89333754-T-C
• gnomAD v4: 15-89333754-T-C
• MyVariant Identifiers: chr15:g.89876985T>C (hg19) ; chr15:g.89333754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333754T>C , CM000677.2:g.89333754T>C	GRCh38
NC_000015.9:g.89876985T>C , CM000677.1:g.89876985T>C	GRCh37
NC_000015.8:g.87677989T>C	NCBI36
NG_008218.1:g.6042A>G
NG_008218.2:g.6042A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1A>G (POLG)	ENSP00000516154.1:p.Met1Val
ENST00000706918.1:c.56A>G (POLGARF)	ENSP00000516626.1:p.His19Arg
ENST00000268124.11:c.1A>G (POLG) MANE Select	ENSP00000268124.5:p.Met1Val
ENST00000635986.2:c.1A>G (POLG)	ENSP00000490653.2:p.Met1Val
ENST00000636774.1:c.1A>G (POLG)	ENSP00000489799.1:p.Met1Val
ENST00000650303.2:c.56A>G (POLG)	ENSP00000497242.2:p.His19Arg
ENST00000672071.1:n.199A>G (POLG)
ENST00000268124.9:c.1A>G (POLG)	ENSP00000268124.5:p.Met1Val
ENST00000442287.6:c.1A>G (POLG)	ENSP00000399851.2:p.Met1Val
ENST00000631044.2:c.1A>G (POLG)	ENSP00000486730.1:p.Met1Val
NM_001126131.1:c.1A>G (POLG)	NP_001119603.1:p.Met1Val
NM_002693.2:c.1A>G (POLG)	NP_002684.1:p.Met1Val
NM_001126131.2:c.1A>G (POLG)	NP_001119603.1:p.Met1Val
NM_002693.3:c.1A>G (POLG) MANE Select	NP_002684.1:p.Met1Val