Canonical Allele Identifier: CA492080650

Gene: POLG

Linked Data

• dbSNP Id: rs757917194
• gnomAD v2: 15-89873438-G-A
• gnomAD v4: 15-89330207-G-A
• MyVariant Identifiers: chr15:g.89873438G>A (hg19) ; chr15:g.89330207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330207G>A , CM000677.2:g.89330207G>A	GRCh38
NC_000015.9:g.89873438G>A , CM000677.1:g.89873438G>A	GRCh37
NC_000015.8:g.87674442G>A	NCBI36
NG_008218.1:g.9589C>T
NG_008218.2:g.9589C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.729C>T	ENSP00000516154.1:p.Asp243=
ENST00000268124.11:c.729C>T MANE Select	ENSP00000268124.5:p.Asp243=
ENST00000530292.3:c.330C>T	ENSP00000432885.2:p.Asp110=
ENST00000635986.2:c.729C>T	ENSP00000490653.2:p.Asp243=
ENST00000636774.1:c.729C>T	ENSP00000489799.1:p.Asp243=
ENST00000666746.1:c.386C>T
ENST00000672071.1:n.927C>T
ENST00000268124.9:c.729C>T	ENSP00000268124.5:p.Asp243=
ENST00000442287.6:c.729C>T	ENSP00000399851.2:p.Asp243=
ENST00000631044.2:c.*112C>T	ENSP00000486730.1:n.*112C>T
NM_001126131.1:c.729C>T	NP_001119603.1:p.Asp243=
NM_002693.2:c.729C>T	NP_002684.1:p.Asp243=
NM_001126131.2:c.729C>T	NP_001119603.1:p.Asp243=
NM_002693.3:c.729C>T MANE Select	NP_002684.1:p.Asp243=