Canonical Allele Identifier: CA232565
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 129999
ClinVar RCV Id: RCV000118023 RCV000433050 RCV001121510 RCV001847714 RCV000459441 RCV002312232
dbSNP Id: rs61756401
ExAC: 15:89872249 C / T
gnomAD v2: 15-89872249-C-T
gnomAD v3: 15-89329018-C-T
gnomAD v4: 15-89329018-C-T
MyVariant Identifiers: chr15:g.89872249C>T (hg19) chr15:g.89329018C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329018C>T , CM000677.2:g.89329018C>T GRCh38
NC_000015.9:g.89872249C>T , CM000677.1:g.89872249C>T GRCh37
NC_000015.8:g.87673253C>T NCBI36
NG_008218.1:g.10778G>A
NG_008218.2:g.10778G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.948G>A ENSP00000516154.1:p.Lys316=
ENST00000268124.11:c.948G>A MANE Select ENSP00000268124.5:p.Lys316=
ENST00000530292.3:c.549G>A ENSP00000432885.2:p.Lys183=
ENST00000635986.2:c.948G>A ENSP00000490653.2:p.Lys316=
ENST00000636774.1:c.948G>A ENSP00000489799.1:p.Lys316=
ENST00000637264.1:c.20G>A
ENST00000666746.1:c.605G>A
ENST00000672071.1:n.1146G>A
ENST00000268124.9:c.948G>A ENSP00000268124.5:p.Lys316=
ENST00000442287.6:c.948G>A ENSP00000399851.2:p.Lys316=
ENST00000631044.2:c.*331G>A ENSP00000486730.1:n.*331G>A
NM_001126131.1:c.948G>A NP_001119603.1:p.Lys316=
NM_002693.2:c.948G>A NP_002684.1:p.Lys316=
NM_001126131.2:c.948G>A NP_001119603.1:p.Lys316=
NM_002693.3:c.948G>A MANE Select NP_002684.1:p.Lys316=
Search 100 bp 5'
Search 100 bp 3'