Canonical Allele Identifier: CA6079623
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000388531
RCV000604465
RCV003221900
ClinVar Variation:
305270
dbSNP:
201366697
gnomAD v2:
11:64517841 C / T
gnomAD v3:
11:64750369 C / T
gnomAD v4:
chr11-64750369-C-T
Joint Max Group AF 0.00032319 (MID)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00023613 (MID)
MyVariant.info:
GRCh38 chr11:g.64750369C>T
GRCh37 chr11:g.64517841C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750369C>T , CM000673.2:g.64750369C>T GRCh38
NC_000011.9:g.64517841C>T , CM000673.1:g.64517841C>T GRCh37
NC_000011.8:g.64274417C>T NCBI36
NG_007574.1:g.88G>A , LRG_100:g.88G>A
NG_013018.1:g.15347G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2177+7G>A MANE Select ENSP00000164139.3:n.2177+7G>A
ENST00000164139.3:c.2177+7G>A ENSP00000164139.3:n.2177+7G>A
ENST00000377432.7:c.1913+7G>A ENSP00000366650.3:n.1913+7G>A
NM_001164716.1:c.1913+7G>A NP_001158188.1:n.1913+7G>A
NM_005609.2:c.2177+7G>A NP_005600.1:n.2177+7G>A
NM_005609.3:c.2177+7G>A NP_005600.1:n.2177+7G>A
NM_005609.4:c.2177+7G>A MANE Select NP_005600.1:n.2177+7G>A
Search 100 bp 5'
Search 100 bp 3'