Canonical Allele Identifier: CA381167990
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1448146849
gnomAD v2: 11-64517977-A-G
gnomAD v3: 11-64750505-A-G
gnomAD v4: 11-64750505-A-G
MyVariant Identifiers: chr11:g.64517977A>G (hg19) chr11:g.64750505A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750505A>G , CM000673.2:g.64750505A>G GRCh38
NC_000011.9:g.64517977A>G , CM000673.1:g.64517977A>G GRCh37
NC_000011.8:g.64274553A>G NCBI36
NG_013018.1:g.15211T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2048T>C MANE Select ENSP00000164139.3:p.Met683Thr
ENST00000164139.3:c.2048T>C ENSP00000164139.3:p.Met683Thr
ENST00000377432.7:c.1784T>C ENSP00000366650.3:p.Met595Thr
NM_001164716.1:c.1784T>C NP_001158188.1:p.Met595Thr
NM_005609.2:c.2048T>C NP_005600.1:p.Met683Thr
NM_005609.3:c.2048T>C NP_005600.1:p.Met683Thr
NM_005609.4:c.2048T>C MANE Select NP_005600.1:p.Met683Thr
Search 100 bp 5'
Search 100 bp 3'