Canonical Allele Identifier: CA938842084
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058418830
gnomAD v3: 11-64759520-C-G
gnomAD v4: 11-64759520-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759520C>G , CM000673.2:g.64759520C>G GRCh38
NC_000011.9:g.64526992C>G , CM000673.1:g.64526992C>G GRCh37
NC_000011.8:g.64283568C>G NCBI36
NG_013018.1:g.6196G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.243+136G>C MANE Select ENSP00000164139.3:n.243+136G>C
ENST00000164139.3:c.243+136G>C ENSP00000164139.3:n.243+136G>C
ENST00000377432.7:c.243+136G>C ENSP00000366650.3:n.243+136G>C
NM_001164716.1:c.243+136G>C NP_001158188.1:n.243+136G>C
NM_005609.2:c.243+136G>C NP_005600.1:n.243+136G>C
NM_005609.3:c.243+136G>C NP_005600.1:n.243+136G>C
NM_005609.4:c.243+136G>C MANE Select NP_005600.1:n.243+136G>C
Search 100 bp 5'
Search 100 bp 3'