Canonical Allele Identifier: CA972594546

Gene: POLG POLGARF

Linked Data

• dbSNP Id: rs1023437266
• gnomAD v3: 15-89333760-G-A
• gnomAD v4: 15-89333760-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333760G>A , CM000677.2:g.89333760G>A	GRCh38
NC_000015.9:g.89876991G>A , CM000677.1:g.89876991G>A	GRCh37
NC_000015.8:g.87677995G>A	NCBI36
NG_008218.1:g.6036C>T
NG_008218.2:g.6036C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.-6C>T (POLG)	ENSP00000516154.1:n.-6C>T
ENST00000706918.1:c.50C>T (POLGARF)	ENSP00000516626.1:p.Thr17Ile
ENST00000268124.11:c.-6C>T (POLG) MANE Select	ENSP00000268124.5:n.-6C>T
ENST00000635986.2:c.-6C>T (POLG)	ENSP00000490653.2:n.-6C>T
ENST00000636774.1:c.-6C>T (POLG)	ENSP00000489799.1:n.-6C>T
ENST00000650303.2:c.50C>T (POLG)	ENSP00000497242.2:p.Thr17Ile
ENST00000672071.1:n.193C>T (POLG)
ENST00000268124.9:c.-6C>T (POLG)	ENSP00000268124.5:n.-6C>T
ENST00000442287.6:c.-6C>T (POLG)	ENSP00000399851.2:n.-6C>T
ENST00000631044.2:c.-6C>T (POLG)	ENSP00000486730.1:n.-6C>T
NM_001126131.1:c.-6C>T (POLG)	NP_001119603.1:n.-6C>T
NM_002693.2:c.-6C>T (POLG)	NP_002684.1:n.-6C>T
NM_001126131.2:c.-6C>T (POLG)	NP_001119603.1:n.-6C>T
NM_002693.3:c.-6C>T (POLG) MANE Select	NP_002684.1:n.-6C>T