Canonical Allele Identifier: CA393749728

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861815A>G (hg19) ; chr15:g.89318584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318584A>G , CM000677.2:g.89318584A>G	GRCh38
NC_000015.9:g.89861815A>G , CM000677.1:g.89861815A>G	GRCh37
NC_000015.8:g.87662819A>G	NCBI36
NG_008218.1:g.21212T>C
NG_011736.1:g.79622A>G , LRG_500:g.79622A>G
NG_008218.2:g.21212T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3439T>C	ENSP00000516154.1:p.Tyr1147His
ENST00000268124.11:c.3439T>C MANE Select	ENSP00000268124.5:p.Tyr1147His
ENST00000530292.3:c.3040T>C	ENSP00000432885.2:p.Tyr1014His
ENST00000635986.2:c.*509T>C	ENSP00000490653.2:n.*509T>C
ENST00000636774.1:c.*2006T>C	ENSP00000489799.1:n.*2006T>C
ENST00000637238.1:c.2248T>C	ENSP00000490756.1:n.2248T>C
ENST00000637264.1:c.2511T>C
ENST00000666746.1:c.3016T>C
ENST00000672071.1:n.3637T>C
ENST00000672695.1:n.616T>C
ENST00000672923.2:n.3439T>C
ENST00000268124.9:c.3439T>C	ENSP00000268124.5:p.Tyr1147His
ENST00000442287.6:c.3439T>C	ENSP00000399851.2:p.Tyr1147His
ENST00000530292.2:c.523T>C	ENSP00000432885.1:p.Tyr175His
ENST00000631044.2:c.*2863T>C	ENSP00000486730.1:n.*2863T>C
NM_001126131.1:c.3439T>C	NP_001119603.1:p.Tyr1147His
NM_002693.2:c.3439T>C	NP_002684.1:p.Tyr1147His
NM_001126131.2:c.3439T>C	NP_001119603.1:p.Tyr1147His
NM_002693.3:c.3439T>C MANE Select	NP_002684.1:p.Tyr1147His