Canonical Allele Identifier: CA274559723

Gene: POLG

Linked Data

• dbSNP Id: rs892112465
• gnomAD v2: 15-89872985-G-A
• gnomAD v3: 15-89329754-G-A
• gnomAD v4: 15-89329754-G-A
• MyVariant Identifiers: chr15:g.89872985G>A (hg19) ; chr15:g.89329754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329754G>A , CM000677.2:g.89329754G>A	GRCh38
NC_000015.9:g.89872985G>A , CM000677.1:g.89872985G>A	GRCh37
NC_000015.8:g.87673989G>A	NCBI36
NG_008218.1:g.10042C>T
NG_008218.2:g.10042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.855+327C>T	ENSP00000516154.1:n.855+327C>T
ENST00000268124.11:c.855+327C>T MANE Select	ENSP00000268124.5:n.855+327C>T
ENST00000530292.3:c.456+327C>T	ENSP00000432885.2:n.456+327C>T
ENST00000635986.2:c.855+327C>T	ENSP00000490653.2:n.855+327C>T
ENST00000636774.1:c.855+327C>T	ENSP00000489799.1:n.855+327C>T
ENST00000666746.1:c.512+327C>T
ENST00000672071.1:n.1053+327C>T
ENST00000268124.9:c.855+327C>T	ENSP00000268124.5:n.855+327C>T
ENST00000442287.6:c.855+327C>T	ENSP00000399851.2:n.855+327C>T
ENST00000631044.2:c.*238+327C>T	ENSP00000486730.1:n.*238+327C>T
NM_001126131.1:c.855+327C>T	NP_001119603.1:n.855+327C>T
NM_002693.2:c.855+327C>T	NP_002684.1:n.855+327C>T
NM_001126131.2:c.855+327C>T	NP_001119603.1:n.855+327C>T
NM_002693.3:c.855+327C>T MANE Select	NP_002684.1:n.855+327C>T