Canonical Allele Identifier: CA474959214
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64521026C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753554C>G , CM000673.2:g.64753554C>G GRCh38
NC_000011.9:g.64521026C>G , CM000673.1:g.64521026C>G GRCh37
NC_000011.8:g.64277602C>G NCBI36
NG_013018.1:g.12162G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1368G>C MANE Select ENSP00000164139.3:p.Val456=
ENST00000164139.3:c.1368G>C ENSP00000164139.3:p.Val456=
ENST00000377432.7:c.1104G>C ENSP00000366650.3:p.Val368=
NM_001164716.1:c.1104G>C NP_001158188.1:p.Val368=
NM_005609.2:c.1368G>C NP_005600.1:p.Val456=
NM_005609.3:c.1368G>C NP_005600.1:p.Val456=
NM_005609.4:c.1368G>C MANE Select NP_005600.1:p.Val456=
Search 100 bp 5'
Search 100 bp 3'