Canonical Allele Identifier: CA716911688

Gene: POLG

Linked Data

• dbSNP Id: rs1362842116
• gnomAD v3: 15-89326811-C-A
• gnomAD v4: 15-89326811-C-A
• MyVariant Identifiers: chr15:g.89870042C>A (hg19) ; chr15:g.89326811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326811C>A , CM000677.2:g.89326811C>A	GRCh38
NC_000015.9:g.89870042C>A , CM000677.1:g.89870042C>A	GRCh37
NC_000015.8:g.87671046C>A	NCBI36
NG_008218.1:g.12985G>T
NG_008218.2:g.12985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1586-73G>T	ENSP00000516154.1:n.1586-73G>T
ENST00000268124.11:c.1586-73G>T MANE Select	ENSP00000268124.5:n.1586-73G>T
ENST00000530292.3:c.1187-73G>T	ENSP00000432885.2:n.1187-73G>T
ENST00000635986.2:c.1586-73G>T	ENSP00000490653.2:n.1586-73G>T
ENST00000636774.1:c.*153-73G>T	ENSP00000489799.1:n.*153-73G>T
ENST00000637238.1:c.323-73G>T	ENSP00000490756.1:n.323-73G>T
ENST00000637264.1:c.658-73G>T
ENST00000666746.1:c.1163-73G>T
ENST00000672071.1:n.1784-73G>T
ENST00000672923.2:n.1689-73G>T
ENST00000268124.9:c.1586-73G>T	ENSP00000268124.5:n.1586-73G>T
ENST00000442287.6:c.1586-73G>T	ENSP00000399851.2:n.1586-73G>T
ENST00000631044.2:c.*969-73G>T	ENSP00000486730.1:n.*969-73G>T
NM_001126131.1:c.1586-73G>T	NP_001119603.1:n.1586-73G>T
NM_002693.2:c.1586-73G>T	NP_002684.1:n.1586-73G>T
NM_001126131.2:c.1586-73G>T	NP_001119603.1:n.1586-73G>T
NM_002693.3:c.1586-73G>T MANE Select	NP_002684.1:n.1586-73G>T