Canonical Allele Identifier: CA1978918605
Gene: PYGM HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747018C= , CM000673.2:g.64747018C= GRCh38
NC_000011.9:g.64514490C= , CM000673.1:g.64514490C= GRCh37
NC_000011.8:g.64271066C= NCBI36
NG_007574.1:g.3439G= , LRG_100:g.3439G=
NG_013018.1:g.18698G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2313-31G= MANE Select ENSP00000164139.3:n.2313-31G=
ENST00000164139.3:c.2313-31G= ENSP00000164139.3:n.2313-31G=
ENST00000377432.7:c.2049-31G= ENSP00000366650.3:n.2049-31G=
ENST00000483742.1:n.1666-31G=
NM_001164716.1:c.2049-31G= NP_001158188.1:n.2049-31G=
NM_005609.2:c.2313-31G= NP_005600.1:n.2313-31G=
NM_005609.3:c.2313-31G= NP_005600.1:n.2313-31G=
NM_005609.4:c.2313-31G= MANE Select NP_005600.1:n.2313-31G=
Search 100 bp 5'
Search 100 bp 3'