Canonical Allele Identifier: CA619857425

Gene: POLG

Linked Data

• dbSNP Id: rs1433854009
• gnomAD v2: 15-89868968-G-A
• gnomAD v3: 15-89325737-G-A
• gnomAD v4: 15-89325737-G-A
• MyVariant Identifiers: chr15:g.89868968G>A (hg19) ; chr15:g.89325737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325737G>A , CM000677.2:g.89325737G>A	GRCh38
NC_000015.9:g.89868968G>A , CM000677.1:g.89868968G>A	GRCh37
NC_000015.8:g.87669972G>A	NCBI36
NG_008218.1:g.14059C>T
NG_008218.2:g.14059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1713-51C>T	ENSP00000516154.1:n.1713-51C>T
ENST00000268124.11:c.1713-51C>T MANE Select	ENSP00000268124.5:n.1713-51C>T
ENST00000530292.3:c.1314-51C>T	ENSP00000432885.2:n.1314-51C>T
ENST00000635986.2:c.1713-51C>T	ENSP00000490653.2:n.1713-51C>T
ENST00000636774.1:c.*280-51C>T	ENSP00000489799.1:n.*280-51C>T
ENST00000637238.1:c.450-51C>T	ENSP00000490756.1:n.450-51C>T
ENST00000637264.1:c.785-51C>T
ENST00000666746.1:c.1290-51C>T
ENST00000670281.1:c.33-51C>T	ENSP00000499709.1:n.33-51C>T
ENST00000672071.1:n.1911-51C>T
ENST00000672923.2:n.1816-51C>T
ENST00000268124.9:c.1713-51C>T	ENSP00000268124.5:n.1713-51C>T
ENST00000442287.6:c.1713-51C>T	ENSP00000399851.2:n.1713-51C>T
ENST00000526314.2:c.95-51C>T
ENST00000631044.2:c.*1096-51C>T	ENSP00000486730.1:n.*1096-51C>T
NM_001126131.1:c.1713-51C>T	NP_001119603.1:n.1713-51C>T
NM_002693.2:c.1713-51C>T	NP_002684.1:n.1713-51C>T
NM_001126131.2:c.1713-51C>T	NP_001119603.1:n.1713-51C>T
NM_002693.3:c.1713-51C>T MANE Select	NP_002684.1:n.1713-51C>T