Canonical Allele Identifier: CA247669
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000252449
RCV000275037
RCV000724693
ClinVar Variation:
198831
dbSNP:
139726186
gnomAD v2:
11:64522240 G / A
gnomAD v3:
11:64754768 G / A
gnomAD v4:
chr11-64754768-G-A
Joint Max Group AF 0.00254088 (NFE)
Genomes Max Group AF 0.00232942 (NFE)
Exomes Max Group AF 0.00253727 (NFE)
MyVariant.info:
GRCh38 chr11:g.64754768G>A
GRCh38 chr11:g.64754768_64754769delinsAA
GRCh37 chr11:g.64522240G>A
GRCh37 chr11:g.64522240_64522241delinsAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64754768G>A , CM000673.2:g.64754768G>A GRCh38
NC_000011.9:g.64522240G>A , CM000673.1:g.64522240G>A GRCh37
NC_000011.8:g.64278816G>A NCBI36
NG_013018.1:g.10948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.924C>T MANE Select ENSP00000164139.3:p.Ile308=
ENST00000164139.3:c.924C>T ENSP00000164139.3:p.Ile308=
ENST00000377432.7:c.660C>T ENSP00000366650.3:p.Ile220=
NM_001164716.1:c.660C>T NP_001158188.1:p.Ile220=
NM_005609.2:c.924C>T NP_005600.1:p.Ile308=
NM_005609.3:c.924C>T NP_005600.1:p.Ile308=
NM_005609.4:c.924C>T MANE Select NP_005600.1:p.Ile308=
Search 100 bp 5'
Search 100 bp 3'