Canonical Allele Identifier: CA474958546
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514444T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746972T>G , CM000673.2:g.64746972T>G GRCh38
NC_000011.9:g.64514444T>G , CM000673.1:g.64514444T>G GRCh37
NC_000011.8:g.64271020T>G NCBI36
NG_007574.1:g.3485A>C , LRG_100:g.3485A>C
NG_013018.1:g.18744A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2328A>C MANE Select ENSP00000164139.3:p.Ala776=
ENST00000164139.3:c.2328A>C ENSP00000164139.3:p.Ala776=
ENST00000377432.7:c.2064A>C ENSP00000366650.3:p.Ala688=
ENST00000483742.1:n.1681A>C
NM_001164716.1:c.2064A>C NP_001158188.1:p.Ala688=
NM_005609.2:c.2328A>C NP_005600.1:p.Ala776=
NM_005609.3:c.2328A>C NP_005600.1:p.Ala776=
NM_005609.4:c.2328A>C MANE Select NP_005600.1:p.Ala776=