Canonical Allele Identifier: CA474958907
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64518894G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751422G>C , CM000673.2:g.64751422G>C GRCh38
NC_000011.9:g.64518894G>C , CM000673.1:g.64518894G>C GRCh37
NC_000011.8:g.64275470G>C NCBI36
NG_013018.1:g.14294C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1872C>G MANE Select ENSP00000164139.3:p.Val624=
ENST00000164139.3:c.1872C>G ENSP00000164139.3:p.Val624=
ENST00000377432.7:c.1608C>G ENSP00000366650.3:p.Val536=
ENST00000462303.1:n.196C>G
NM_001164716.1:c.1608C>G NP_001158188.1:p.Val536=
NM_005609.2:c.1872C>G NP_005600.1:p.Val624=
NM_005609.3:c.1872C>G NP_005600.1:p.Val624=
NM_005609.4:c.1872C>G MANE Select NP_005600.1:p.Val624=