Canonical Allele Identifier: CA275527
Gene: PYGM HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.64754024G>A
GRCh37 chr11:g.64521496G>A
Revel Score:
ENST00000377432 0.946
ENST00000164139 (MANE Select) 0.946
ENST00000540450 0.946
gnomAD v2:
11:64521496 G / A
gnomAD v3:
11:64754024 G / A
gnomAD v4:
chr11-64754024-G-A
Joint Max Group AF 0.00097492 (NFE)
Genomes Max Group AF 0.00084785 (NFE)
Exomes Max Group AF 0.00101466 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64754024G>A , CM000673.2:g.64754024G>A GRCh38
NC_000011.9:g.64521496G>A , CM000673.1:g.64521496G>A GRCh37
NC_000011.8:g.64278072G>A NCBI36
NG_013018.1:g.11692C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1094C>T MANE Select ENSP00000164139.3:p.Ala365Val
ENST00000164139.3:c.1094C>T ENSP00000164139.3:p.Ala365Val
ENST00000377432.7:c.830C>T ENSP00000366650.3:p.Ala277Val
ENST00000460413.1:n.171C>T
NM_001164716.1:c.830C>T NP_001158188.1:p.Ala277Val
NM_005609.2:c.1094C>T NP_005600.1:p.Ala365Val
NM_005609.3:c.1094C>T NP_005600.1:p.Ala365Val
NM_005609.4:c.1094C>T MANE Select NP_005600.1:p.Ala365Val
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