Canonical Allele Identifier: CA393767114

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs1389093506
• gnomAD v2: 15-89873455-G-A
• MyVariant Identifiers: chr15:g.89873455G>A (hg19) ; chr15:g.89330224G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330224G>A , CM000677.2:g.89330224G>A	GRCh38
NC_000015.9:g.89873455G>A , CM000677.1:g.89873455G>A	GRCh37
NC_000015.8:g.87674459G>A	NCBI36
NG_008218.1:g.9572C>T
NG_008218.2:g.9572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.712C>T (POLG)	ENSP00000516154.1:p.Gln238Ter
ENST00000706918.1:c.767C>T (POLGARF)	ENSP00000516626.1:p.Pro256Leu
ENST00000268124.11:c.712C>T (POLG) MANE Select	ENSP00000268124.5:p.Gln238Ter
ENST00000530292.3:c.313C>T (POLG)	ENSP00000432885.2:p.Gln105Ter
ENST00000635986.2:c.712C>T (POLG)	ENSP00000490653.2:p.Gln238Ter
ENST00000636774.1:c.712C>T (POLG)	ENSP00000489799.1:p.Gln238Ter
ENST00000637307.1:c.87C>T (POLG)
ENST00000650303.2:c.767C>T (POLG)	ENSP00000497242.2:p.Pro256Leu
ENST00000666746.1:c.369C>T (POLG)
ENST00000672071.1:n.910C>T (POLG)
ENST00000268124.9:c.712C>T (POLG)	ENSP00000268124.5:p.Gln238Ter
ENST00000442287.6:c.712C>T (POLG)	ENSP00000399851.2:p.Gln238Ter
ENST00000631044.2:c.*95C>T (POLG)	ENSP00000486730.1:n.*95C>T
NM_001126131.1:c.712C>T (POLG)	NP_001119603.1:p.Gln238Ter
NM_002693.2:c.712C>T (POLG)	NP_002684.1:p.Gln238Ter
NM_001126131.2:c.712C>T (POLG)	NP_001119603.1:p.Gln238Ter
NM_002693.3:c.712C>T (POLG) MANE Select	NP_002684.1:p.Gln238Ter