Canonical Allele Identifier: CA619857477

Gene: POLG

Linked Data

• dbSNP Id: rs754622615
• gnomAD v2: 15-89870363-C-A
• gnomAD v3: 15-89327132-C-A
• gnomAD v4: 15-89327132-C-A
• MyVariant Identifiers: chr15:g.89870363C>A (hg19) ; chr15:g.89327132C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327132C>A , CM000677.2:g.89327132C>A	GRCh38
NC_000015.9:g.89870363C>A , CM000677.1:g.89870363C>A	GRCh37
NC_000015.8:g.87671367C>A	NCBI36
NG_008218.1:g.12664G>T
NG_008218.2:g.12664G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1433+35G>T	ENSP00000516154.1:n.1433+35G>T
ENST00000268124.11:c.1433+35G>T MANE Select	ENSP00000268124.5:n.1433+35G>T
ENST00000530292.3:c.1034+35G>T	ENSP00000432885.2:n.1034+35G>T
ENST00000635986.2:c.1433+35G>T	ENSP00000490653.2:n.1433+35G>T
ENST00000636774.1:c.1433+35G>T	ENSP00000489799.1:n.1433+35G>T
ENST00000637238.1:c.170+35G>T	ENSP00000490756.1:n.170+35G>T
ENST00000637264.1:c.505+35G>T
ENST00000666746.1:c.1010+35G>T
ENST00000672071.1:n.1631+35G>T
ENST00000672923.2:n.1536+35G>T
ENST00000268124.9:c.1433+35G>T	ENSP00000268124.5:n.1433+35G>T
ENST00000442287.6:c.1433+35G>T	ENSP00000399851.2:n.1433+35G>T
ENST00000532363.2:n.326G>T
ENST00000631044.2:c.*816+35G>T	ENSP00000486730.1:n.*816+35G>T
NM_001126131.1:c.1433+35G>T	NP_001119603.1:n.1433+35G>T
NM_002693.2:c.1433+35G>T	NP_002684.1:n.1433+35G>T
NM_001126131.2:c.1433+35G>T	NP_001119603.1:n.1433+35G>T
NM_002693.3:c.1433+35G>T MANE Select	NP_002684.1:n.1433+35G>T