Canonical Allele Identifier: CA393750030

Gene: POLG

Linked Data

• dbSNP Id: rs2055345331
• gnomAD v3: 15-89318703-T-G
• gnomAD v4: 15-89318703-T-G
• MyVariant Identifiers: chr15:g.89861934T>G (hg19) ; chr15:g.89318703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318703T>G , CM000677.2:g.89318703T>G	GRCh38
NC_000015.9:g.89861934T>G , CM000677.1:g.89861934T>G	GRCh37
NC_000015.8:g.87662938T>G	NCBI36
NG_008218.1:g.21093A>C
NG_011736.1:g.79741T>G , LRG_500:g.79741T>G
NG_008218.2:g.21093A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3320A>C	ENSP00000516154.1:p.Asp1107Ala
ENST00000268124.11:c.3320A>C MANE Select	ENSP00000268124.5:p.Asp1107Ala
ENST00000530292.3:c.2921A>C	ENSP00000432885.2:p.Asp974Ala
ENST00000635986.2:c.*390A>C	ENSP00000490653.2:n.*390A>C
ENST00000636774.1:c.*1887A>C	ENSP00000489799.1:n.*1887A>C
ENST00000637238.1:c.2129A>C	ENSP00000490756.1:n.2129A>C
ENST00000637264.1:c.2392A>C
ENST00000666746.1:c.2897A>C
ENST00000672071.1:n.3518A>C
ENST00000672695.1:n.497A>C
ENST00000672923.2:n.3320A>C
ENST00000268124.9:c.3320A>C	ENSP00000268124.5:p.Asp1107Ala
ENST00000442287.6:c.3320A>C	ENSP00000399851.2:p.Asp1107Ala
ENST00000530292.2:c.404A>C	ENSP00000432885.1:p.Asp135Ala
ENST00000631044.2:c.*2744A>C	ENSP00000486730.1:n.*2744A>C
NM_001126131.1:c.3320A>C	NP_001119603.1:p.Asp1107Ala
NM_002693.2:c.3320A>C	NP_002684.1:p.Asp1107Ala
NM_001126131.2:c.3320A>C	NP_001119603.1:p.Asp1107Ala
NM_002693.3:c.3320A>C MANE Select	NP_002684.1:p.Asp1107Ala