Canonical Allele Identifier: CA393766978

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89873409G>A (hg19) ; chr15:g.89330178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330178G>A , CM000677.2:g.89330178G>A	GRCh38
NC_000015.9:g.89873409G>A , CM000677.1:g.89873409G>A	GRCh37
NC_000015.8:g.87674413G>A	NCBI36
NG_008218.1:g.9618C>T
NG_008218.2:g.9618C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.758C>T	ENSP00000516154.1:p.Ala253Val
ENST00000268124.11:c.758C>T MANE Select	ENSP00000268124.5:p.Ala253Val
ENST00000530292.3:c.359C>T	ENSP00000432885.2:p.Ala120Val
ENST00000635986.2:c.758C>T	ENSP00000490653.2:p.Ala253Val
ENST00000636774.1:c.758C>T	ENSP00000489799.1:p.Ala253Val
ENST00000666746.1:c.415C>T
ENST00000672071.1:n.956C>T
ENST00000268124.9:c.758C>T	ENSP00000268124.5:p.Ala253Val
ENST00000442287.6:c.758C>T	ENSP00000399851.2:p.Ala253Val
ENST00000631044.2:c.*141C>T	ENSP00000486730.1:n.*141C>T
NM_001126131.1:c.758C>T	NP_001119603.1:p.Ala253Val
NM_002693.2:c.758C>T	NP_002684.1:p.Ala253Val
NM_001126131.2:c.758C>T	NP_001119603.1:p.Ala253Val
NM_002693.3:c.758C>T MANE Select	NP_002684.1:p.Ala253Val