Canonical Allele Identifier: CA474958689
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64517973G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750501G>C , CM000673.2:g.64750501G>C GRCh38
NC_000011.9:g.64517973G>C , CM000673.1:g.64517973G>C GRCh37
NC_000011.8:g.64274549G>C NCBI36
NG_013018.1:g.15215C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2052C>G MANE Select ENSP00000164139.3:p.Leu684=
ENST00000164139.3:c.2052C>G ENSP00000164139.3:p.Leu684=
ENST00000377432.7:c.1788C>G ENSP00000366650.3:p.Leu596=
NM_001164716.1:c.1788C>G NP_001158188.1:p.Leu596=
NM_005609.2:c.2052C>G NP_005600.1:p.Leu684=
NM_005609.3:c.2052C>G NP_005600.1:p.Leu684=
NM_005609.4:c.2052C>G MANE Select NP_005600.1:p.Leu684=
Search 100 bp 5'
Search 100 bp 3'