Canonical Allele Identifier: CA6080017
Gene: PYGM HGNC NCBI
ClinVar RCV:
RCV000411263
ClinVar Variation:
370110
dbSNP:
749560316
gnomAD v2:
11:64521724 C / T
gnomAD v3:
11:64754252 C / T
gnomAD v4:
chr11-64754252-C-T
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
MyVariant.info:
GRCh38 chr11:g.64754252C>T
GRCh37 chr11:g.64521724C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64754252C>T , CM000673.2:g.64754252C>T GRCh38
NC_000011.9:g.64521724C>T , CM000673.1:g.64521724C>T GRCh37
NC_000011.8:g.64278300C>T NCBI36
NG_013018.1:g.11464G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1092+1G>A MANE Select ENSP00000164139.3:n.1092+1G>A
ENST00000164139.3:c.1092+1G>A ENSP00000164139.3:n.1092+1G>A
ENST00000377432.7:c.828+1G>A ENSP00000366650.3:n.828+1G>A
ENST00000460413.1:n.169+1G>A
NM_001164716.1:c.828+1G>A NP_001158188.1:n.828+1G>A
NM_005609.2:c.1092+1G>A NP_005600.1:n.1092+1G>A
NM_005609.3:c.1092+1G>A NP_005600.1:n.1092+1G>A
NM_005609.4:c.1092+1G>A MANE Select NP_005600.1:n.1092+1G>A
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