Canonical Allele Identifier: CA381113085
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v3: 11-64759835-C-A
gnomAD v4: 11-64759835-C-A
MyVariant Identifiers: chr11:g.64527307C>A (hg19) chr11:g.64759835C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759835C>A , CM000673.2:g.64759835C>A GRCh38
NC_000011.9:g.64527307C>A , CM000673.1:g.64527307C>A GRCh37
NC_000011.8:g.64283883C>A NCBI36
NG_013018.1:g.5881G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.64G>T MANE Select ENSP00000164139.3:p.Val22Leu
ENST00000164139.3:c.64G>T ENSP00000164139.3:p.Val22Leu
ENST00000377432.7:c.64G>T ENSP00000366650.3:p.Val22Leu
NM_001164716.1:c.64G>T NP_001158188.1:p.Val22Leu
NM_005609.2:c.64G>T NP_005600.1:p.Val22Leu
NM_005609.3:c.64G>T NP_005600.1:p.Val22Leu
NM_005609.4:c.64G>T MANE Select NP_005600.1:p.Val22Leu
Search 100 bp 5'
Search 100 bp 3'