Canonical Allele Identifier: CA474960832
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64525979C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758507C>A , CM000673.2:g.64758507C>A GRCh38
NC_000011.9:g.64525979C>A , CM000673.1:g.64525979C>A GRCh37
NC_000011.8:g.64282555C>A NCBI36
NG_013018.1:g.7209G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.354G>T MANE Select ENSP00000164139.3:p.Leu118=
ENST00000164139.3:c.354G>T ENSP00000164139.3:p.Leu118=
ENST00000377432.7:c.244-241G>T ENSP00000366650.3:n.244-241G>T
NM_001164716.1:c.244-241G>T NP_001158188.1:n.244-241G>T
NM_005609.2:c.354G>T NP_005600.1:p.Leu118=
NM_005609.3:c.354G>T NP_005600.1:p.Leu118=
NM_005609.4:c.354G>T MANE Select NP_005600.1:p.Leu118=
Search 100 bp 5'
Search 100 bp 3'