Canonical Allele Identifier: CA381164488
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514437C>G (hg19) chr11:g.64746965C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746965C>G , CM000673.2:g.64746965C>G GRCh38
NC_000011.9:g.64514437C>G , CM000673.1:g.64514437C>G GRCh37
NC_000011.8:g.64271013C>G NCBI36
NG_007574.1:g.3492G>C , LRG_100:g.3492G>C
NG_013018.1:g.18751G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2335G>C MANE Select ENSP00000164139.3:p.Glu779Gln
ENST00000164139.3:c.2335G>C ENSP00000164139.3:p.Glu779Gln
ENST00000377432.7:c.2071G>C ENSP00000366650.3:p.Glu691Gln
ENST00000483742.1:n.1688G>C
NM_001164716.1:c.2071G>C NP_001158188.1:p.Glu691Gln
NM_005609.2:c.2335G>C NP_005600.1:p.Glu779Gln
NM_005609.3:c.2335G>C NP_005600.1:p.Glu779Gln
NM_005609.4:c.2335G>C MANE Select NP_005600.1:p.Glu779Gln
Search 100 bp 5'
Search 100 bp 3'