Canonical Allele Identifier: CA393765167

Gene: POLG

Linked Data

• gnomAD v4: 15-89328810-C-T
• MyVariant Identifiers: chr15:g.89872041C>T (hg19) ; chr15:g.89328810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328810C>T , CM000677.2:g.89328810C>T	GRCh38
NC_000015.9:g.89872041C>T , CM000677.1:g.89872041C>T	GRCh37
NC_000015.8:g.87673045C>T	NCBI36
NG_008218.1:g.10986G>A
NG_008218.2:g.10986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1045G>A	ENSP00000516154.1:p.Asp349Asn
ENST00000268124.11:c.1045G>A MANE Select	ENSP00000268124.5:p.Asp349Asn
ENST00000530292.3:c.646G>A	ENSP00000432885.2:p.Asp216Asn
ENST00000635986.2:c.1045G>A	ENSP00000490653.2:p.Asp349Asn
ENST00000636774.1:c.1045G>A	ENSP00000489799.1:p.Asp349Asn
ENST00000637264.1:c.117G>A
ENST00000666746.1:c.702G>A
ENST00000672071.1:n.1243G>A
ENST00000672923.2:n.42G>A
ENST00000268124.9:c.1045G>A	ENSP00000268124.5:p.Asp349Asn
ENST00000442287.6:c.1045G>A	ENSP00000399851.2:p.Asp349Asn
ENST00000631044.2:c.*428G>A	ENSP00000486730.1:n.*428G>A
NM_001126131.1:c.1045G>A	NP_001119603.1:p.Asp349Asn
NM_002693.2:c.1045G>A	NP_002684.1:p.Asp349Asn
NM_001126131.2:c.1045G>A	NP_001119603.1:p.Asp349Asn
NM_002693.3:c.1045G>A MANE Select	NP_002684.1:p.Asp349Asn