Canonical Allele Identifier: CA393765256

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89872055G>A (hg19) ; chr15:g.89328824G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328824G>A , CM000677.2:g.89328824G>A	GRCh38
NC_000015.9:g.89872055G>A , CM000677.1:g.89872055G>A	GRCh37
NC_000015.8:g.87673059G>A	NCBI36
NG_008218.1:g.10972C>T
NG_008218.2:g.10972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1031C>T	ENSP00000516154.1:p.Ser344Phe
ENST00000268124.11:c.1031C>T MANE Select	ENSP00000268124.5:p.Ser344Phe
ENST00000530292.3:c.632C>T	ENSP00000432885.2:p.Ser211Phe
ENST00000635986.2:c.1031C>T	ENSP00000490653.2:p.Ser344Phe
ENST00000636774.1:c.1031C>T	ENSP00000489799.1:p.Ser344Phe
ENST00000637264.1:c.103C>T
ENST00000666746.1:c.688C>T
ENST00000672071.1:n.1229C>T
ENST00000672923.2:n.28C>T
ENST00000268124.9:c.1031C>T	ENSP00000268124.5:p.Ser344Phe
ENST00000442287.6:c.1031C>T	ENSP00000399851.2:p.Ser344Phe
ENST00000631044.2:c.*414C>T	ENSP00000486730.1:n.*414C>T
NM_001126131.1:c.1031C>T	NP_001119603.1:p.Ser344Phe
NM_002693.2:c.1031C>T	NP_002684.1:p.Ser344Phe
NM_001126131.2:c.1031C>T	NP_001119603.1:p.Ser344Phe
NM_002693.3:c.1031C>T MANE Select	NP_002684.1:p.Ser344Phe