Canonical Allele Identifier: CA2614192177
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64760014-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64760014G>T , CM000673.2:g.64760014G>T GRCh38
NC_000011.9:g.64527486G>T , CM000673.1:g.64527486G>T GRCh37
NC_000011.8:g.64284062G>T NCBI36
NG_013018.1:g.5702C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.3:c.-116C>A ENSP00000164139.3:n.-116C>A
NM_001164716.1:c.-116C>A NP_001158188.1:n.-116C>A
NM_005609.2:c.-116C>A NP_005600.1:n.-116C>A
NM_005609.3:c.-116C>A NP_005600.1:n.-116C>A
Search 100 bp 5'
Search 100 bp 3'