Canonical Allele Identifier: CA381165462
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514766T>G (hg19) chr11:g.64747294T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747294T>G , CM000673.2:g.64747294T>G GRCh38
NC_000011.9:g.64514766T>G , CM000673.1:g.64514766T>G GRCh37
NC_000011.8:g.64271342T>G NCBI36
NG_007574.1:g.3163A>C , LRG_100:g.3163A>C
NG_013018.1:g.18422A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2242A>C MANE Select ENSP00000164139.3:p.Ser748Arg
ENST00000164139.3:c.2242A>C ENSP00000164139.3:p.Ser748Arg
ENST00000377432.7:c.1978A>C ENSP00000366650.3:p.Ser660Arg
ENST00000483742.1:n.1595A>C
NM_001164716.1:c.1978A>C NP_001158188.1:p.Ser660Arg
NM_005609.2:c.2242A>C NP_005600.1:p.Ser748Arg
NM_005609.3:c.2242A>C NP_005600.1:p.Ser748Arg
NM_005609.4:c.2242A>C MANE Select NP_005600.1:p.Ser748Arg
Search 100 bp 5'
Search 100 bp 3'