Canonical Allele Identifier: CA381168697
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64518820T>C (hg19) chr11:g.64751348T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751348T>C , CM000673.2:g.64751348T>C GRCh38
NC_000011.9:g.64518820T>C , CM000673.1:g.64518820T>C GRCh37
NC_000011.8:g.64275396T>C NCBI36
NG_013018.1:g.14368A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1946A>G MANE Select ENSP00000164139.3:p.Tyr649Cys
ENST00000164139.3:c.1946A>G ENSP00000164139.3:p.Tyr649Cys
ENST00000377432.7:c.1682A>G ENSP00000366650.3:p.Tyr561Cys
ENST00000462303.1:n.270A>G
NM_001164716.1:c.1682A>G NP_001158188.1:p.Tyr561Cys
NM_005609.2:c.1946A>G NP_005600.1:p.Tyr649Cys
NM_005609.3:c.1946A>G NP_005600.1:p.Tyr649Cys
NM_005609.4:c.1946A>G MANE Select NP_005600.1:p.Tyr649Cys
Search 100 bp 5'
Search 100 bp 3'