Canonical Allele Identifier: CA2573147418
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1410779
ClinVar RCV Id: RCV001920289
dbSNP Id: rs2135829844
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751442dup , CM000673.2:g.64751442dup GRCh38
NC_000011.9:g.64518914dup , CM000673.1:g.64518914dup GRCh37
NC_000011.8:g.64275490dup NCBI36
NG_013018.1:g.14275dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1853dup MANE Select ENSP00000164139.3:p.Met619AspfsTer16
ENST00000164139.3:c.1853dup ENSP00000164139.3:p.Met619AspfsTer16
ENST00000377432.7:c.1589dup ENSP00000366650.3:p.Met531AspfsTer16
ENST00000462303.1:n.177dup
NM_001164716.1:c.1589dup NP_001158188.1:p.Met531AspfsTer16
NM_005609.2:c.1853dup NP_005600.1:p.Met619AspfsTer16
NM_005609.3:c.1853dup NP_005600.1:p.Met619AspfsTer16
NM_005609.4:c.1853dup MANE Select NP_005600.1:p.Met619AspfsTer16
Search 100 bp 5'
Search 100 bp 3'