Canonical Allele Identifier: CA7724448

Gene: POLG

Linked Data

• ClinVar Variation Id: 317326
• ClinVar RCV Id: RCV000395822 ; RCV000468935 ; RCV000734135
• dbSNP Id: rs555280530
• ExAC: 15:89865094 T / G
• gnomAD v2: 15-89865094-T-G
• gnomAD v3: 15-89321863-T-G
• gnomAD v4: 15-89321863-T-G
• MyVariant Identifiers: chr15:g.89865094T>G (hg19) ; chr15:g.89321863T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321863T>G , CM000677.2:g.89321863T>G	GRCh38
NC_000015.9:g.89865094T>G , CM000677.1:g.89865094T>G	GRCh37
NC_000015.8:g.87666098T>G	NCBI36
NG_008218.1:g.17933A>C
NG_008218.2:g.17933A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2481-10A>C	ENSP00000516154.1:n.2481-10A>C
ENST00000268124.11:c.2481-10A>C MANE Select	ENSP00000268124.5:n.2481-10A>C
ENST00000530292.3:c.2082-10A>C	ENSP00000432885.2:n.2082-10A>C
ENST00000635986.2:c.2481-10A>C	ENSP00000490653.2:n.2481-10A>C
ENST00000636774.1:c.*1048-10A>C	ENSP00000489799.1:n.*1048-10A>C
ENST00000637238.1:c.1178-10A>C	ENSP00000490756.1:n.1178-10A>C
ENST00000637264.1:c.1553-10A>C
ENST00000666746.1:c.2058-10A>C
ENST00000670281.1:c.800+99A>C	ENSP00000499709.1:n.800+99A>C
ENST00000672071.1:n.2679-10A>C
ENST00000672923.2:n.2423-10A>C
ENST00000268124.9:c.2481-10A>C	ENSP00000268124.5:n.2481-10A>C
ENST00000442287.6:c.2481-10A>C	ENSP00000399851.2:n.2481-10A>C
ENST00000528881.2:c.196-603A>C
ENST00000530715.5:c.185+879A>C	ENSP00000431395.1:n.185+879A>C
ENST00000532584.5:n.620A>C
ENST00000631044.2:c.*1905-10A>C	ENSP00000486730.1:n.*1905-10A>C
NM_001126131.1:c.2481-10A>C	NP_001119603.1:n.2481-10A>C
NM_002693.2:c.2481-10A>C	NP_002684.1:n.2481-10A>C
NM_001126131.2:c.2481-10A>C	NP_001119603.1:n.2481-10A>C
NM_002693.3:c.2481-10A>C MANE Select	NP_002684.1:n.2481-10A>C