Canonical Allele Identifier: CA393750096

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861947T>A (hg19) ; chr15:g.89318716T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318716T>A , CM000677.2:g.89318716T>A	GRCh38
NC_000015.9:g.89861947T>A , CM000677.1:g.89861947T>A	GRCh37
NC_000015.8:g.87662951T>A	NCBI36
NG_008218.1:g.21080A>T
NG_011736.1:g.79754T>A , LRG_500:g.79754T>A
NG_008218.2:g.21080A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3307A>T	ENSP00000516154.1:p.Ser1103Cys
ENST00000268124.11:c.3307A>T MANE Select	ENSP00000268124.5:p.Ser1103Cys
ENST00000530292.3:c.2908A>T	ENSP00000432885.2:p.Ser970Cys
ENST00000635986.2:c.*377A>T	ENSP00000490653.2:n.*377A>T
ENST00000636774.1:c.*1874A>T	ENSP00000489799.1:n.*1874A>T
ENST00000637238.1:c.2116A>T	ENSP00000490756.1:n.2116A>T
ENST00000637264.1:c.2379A>T
ENST00000666746.1:c.2884A>T
ENST00000672071.1:n.3505A>T
ENST00000672695.1:n.484A>T
ENST00000672923.2:n.3307A>T
ENST00000268124.9:c.3307A>T	ENSP00000268124.5:p.Ser1103Cys
ENST00000442287.6:c.3307A>T	ENSP00000399851.2:p.Ser1103Cys
ENST00000530292.2:c.391A>T	ENSP00000432885.1:p.Ser131Cys
ENST00000631044.2:c.*2731A>T	ENSP00000486730.1:n.*2731A>T
NM_001126131.1:c.3307A>T	NP_001119603.1:p.Ser1103Cys
NM_002693.2:c.3307A>T	NP_002684.1:p.Ser1103Cys
NM_001126131.2:c.3307A>T	NP_001119603.1:p.Ser1103Cys
NM_002693.3:c.3307A>T MANE Select	NP_002684.1:p.Ser1103Cys