Canonical Allele Identifier: CA474959213
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64753554-C-A
MyVariant Identifiers: chr11:g.64521026C>A (hg19)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1368G>T MANE Select ENSP00000164139.3:p.Val456=
ENST00000164139.3:c.1368G>T ENSP00000164139.3:p.Val456=
ENST00000377432.7:c.1104G>T ENSP00000366650.3:p.Val368=
NM_001164716.1:c.1104G>T NP_001158188.1:p.Val368=
NM_005609.2:c.1368G>T NP_005600.1:p.Val456=
NM_005609.3:c.1368G>T NP_005600.1:p.Val456=
NM_005609.4:c.1368G>T MANE Select NP_005600.1:p.Val456=
Search 100 bp 5'
Search 100 bp 3'