Canonical Allele Identifier: CA7724988

Gene: POLG

Linked Data

• ClinVar Variation Id: 619488
• ClinVar RCV Id: RCV000758541 ; RCV000868575 ; RCV003985823
• dbSNP Id: rs551973680
• ExAC: 15:89872222 G / C
• gnomAD v2: 15-89872222-G-C
• gnomAD v3: 15-89328991-G-C
• gnomAD v4: 15-89328991-G-C
• MyVariant Identifiers: chr15:g.89872222G>C (hg19) ; chr15:g.89328991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328991G>C , CM000677.2:g.89328991G>C	GRCh38
NC_000015.9:g.89872222G>C , CM000677.1:g.89872222G>C	GRCh37
NC_000015.8:g.87673226G>C	NCBI36
NG_008218.1:g.10805C>G
NG_008218.2:g.10805C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.975C>G	ENSP00000516154.1:p.Pro325=
ENST00000268124.11:c.975C>G MANE Select	ENSP00000268124.5:p.Pro325=
ENST00000530292.3:c.576C>G	ENSP00000432885.2:p.Pro192=
ENST00000635986.2:c.975C>G	ENSP00000490653.2:p.Pro325=
ENST00000636774.1:c.975C>G	ENSP00000489799.1:p.Pro325=
ENST00000637264.1:c.47C>G
ENST00000666746.1:c.632C>G
ENST00000672071.1:n.1173C>G
ENST00000268124.9:c.975C>G	ENSP00000268124.5:p.Pro325=
ENST00000442287.6:c.975C>G	ENSP00000399851.2:p.Pro325=
ENST00000631044.2:c.*358C>G	ENSP00000486730.1:n.*358C>G
NM_001126131.1:c.975C>G	NP_001119603.1:p.Pro325=
NM_002693.2:c.975C>G	NP_002684.1:p.Pro325=
NM_001126131.2:c.975C>G	NP_001119603.1:p.Pro325=
NM_002693.3:c.975C>G MANE Select	NP_002684.1:p.Pro325=