Canonical Allele Identifier: CA2580084417
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1952052
ClinVar RCV Id: RCV002695186
gnomAD v4: 11-64750588-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750588G>C , CM000673.2:g.64750588G>C GRCh38
NC_000011.9:g.64518060G>C , CM000673.1:g.64518060G>C GRCh37
NC_000011.8:g.64274636G>C NCBI36
NG_013018.1:g.15128C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1970-5C>G MANE Select ENSP00000164139.3:n.1970-5C>G
ENST00000164139.3:c.1970-5C>G ENSP00000164139.3:n.1970-5C>G
ENST00000377432.7:c.1706-5C>G ENSP00000366650.3:n.1706-5C>G
NM_001164716.1:c.1706-5C>G NP_001158188.1:n.1706-5C>G
NM_005609.2:c.1970-5C>G NP_005600.1:n.1970-5C>G
NM_005609.3:c.1970-5C>G NP_005600.1:n.1970-5C>G
NM_005609.4:c.1970-5C>G MANE Select NP_005600.1:n.1970-5C>G
Search 100 bp 5'
Search 100 bp 3'