Canonical Allele Identifier: CA7724422

Gene: POLG

Linked Data

• dbSNP Id: rs772509321
• ExAC: 15:89864990 A / G
• gnomAD v2: 15-89864990-A-G
• gnomAD v4: 15-89321759-A-G
• MyVariant Identifiers: chr15:g.89864990A>G (hg19) ; chr15:g.89321759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321759A>G , CM000677.2:g.89321759A>G	GRCh38
NC_000015.9:g.89864990A>G , CM000677.1:g.89864990A>G	GRCh37
NC_000015.8:g.87665994A>G	NCBI36
NG_008218.1:g.18037T>C
NG_008218.2:g.18037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2575T>C	ENSP00000516154.1:p.Trp859Arg
ENST00000268124.11:c.2575T>C MANE Select	ENSP00000268124.5:p.Trp859Arg
ENST00000530292.3:c.2176T>C	ENSP00000432885.2:p.Trp726Arg
ENST00000635986.2:c.2575T>C	ENSP00000490653.2:p.Trp859Arg
ENST00000636774.1:c.*1142T>C	ENSP00000489799.1:n.*1142T>C
ENST00000637238.1:c.1272T>C	ENSP00000490756.1:n.1272T>C
ENST00000637264.1:c.1647T>C
ENST00000666746.1:c.2152T>C
ENST00000670281.1:c.800+203T>C	ENSP00000499709.1:n.800+203T>C
ENST00000672071.1:n.2773T>C
ENST00000672923.2:n.2517T>C
ENST00000268124.9:c.2575T>C	ENSP00000268124.5:p.Trp859Arg
ENST00000442287.6:c.2575T>C	ENSP00000399851.2:p.Trp859Arg
ENST00000528881.2:c.196-499T>C
ENST00000530715.5:c.186-890T>C	ENSP00000431395.1:n.186-890T>C
ENST00000631044.2:c.*1999T>C	ENSP00000486730.1:n.*1999T>C
NM_001126131.1:c.2575T>C	NP_001119603.1:p.Trp859Arg
NM_002693.2:c.2575T>C	NP_002684.1:p.Trp859Arg
NM_001126131.2:c.2575T>C	NP_001119603.1:p.Trp859Arg
NM_002693.3:c.2575T>C MANE Select	NP_002684.1:p.Trp859Arg