Canonical Allele Identifier: CA223894768
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 878937
ClinVar RCV Id: RCV001105986 RCV003945813
dbSNP Id: rs1045215677
gnomAD v2: 11-64514450-G-A
gnomAD v3: 11-64746978-G-A
gnomAD v4: 11-64746978-G-A
MyVariant Identifiers: chr11:g.64514450G>A (hg19) chr11:g.64746978G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746978G>A , CM000673.2:g.64746978G>A GRCh38
NC_000011.9:g.64514450G>A , CM000673.1:g.64514450G>A GRCh37
NC_000011.8:g.64271026G>A NCBI36
NG_007574.1:g.3479C>T , LRG_100:g.3479C>T
NG_013018.1:g.18738C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2322C>T MANE Select ENSP00000164139.3:p.Val774=
ENST00000164139.3:c.2322C>T ENSP00000164139.3:p.Val774=
ENST00000377432.7:c.2058C>T ENSP00000366650.3:p.Val686=
ENST00000483742.1:n.1675C>T
NM_001164716.1:c.2058C>T NP_001158188.1:p.Val686=
NM_005609.2:c.2322C>T NP_005600.1:p.Val774=
NM_005609.3:c.2322C>T NP_005600.1:p.Val774=
NM_005609.4:c.2322C>T MANE Select NP_005600.1:p.Val774=
Search 100 bp 5'
Search 100 bp 3'