Canonical Allele Identifier: CA474958548
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514450G>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2322C>G MANE Select ENSP00000164139.3:p.Val774=
ENST00000164139.3:c.2322C>G ENSP00000164139.3:p.Val774=
ENST00000377432.7:c.2058C>G ENSP00000366650.3:p.Val686=
ENST00000483742.1:n.1675C>G
NM_001164716.1:c.2058C>G NP_001158188.1:p.Val686=
NM_005609.2:c.2322C>G NP_005600.1:p.Val774=
NM_005609.3:c.2322C>G NP_005600.1:p.Val774=
NM_005609.4:c.2322C>G MANE Select NP_005600.1:p.Val774=