Canonical Allele Identifier: CA1139662012
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 950678
ClinVar RCV Id: RCV001222438
dbSNP Id: rs2058320138
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747272_64747281dup , CM000673.2:g.64747272_64747281dup GRCh38
NC_000011.9:g.64514744_64514753dup , CM000673.1:g.64514744_64514753dup GRCh37
NC_000011.8:g.64271320_64271329dup NCBI36
NG_007574.1:g.3176_3185dup , LRG_100:g.3176_3185dup
NG_013018.1:g.18435_18444dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2255_2264dup MANE Select ENSP00000164139.3:p.Gln755HisfsTer19
ENST00000164139.3:c.2255_2264dup ENSP00000164139.3:p.Gln755HisfsTer19
ENST00000377432.7:c.1991_2000dup ENSP00000366650.3:p.Gln667HisfsTer19
ENST00000483742.1:n.1608_1617dup
NM_001164716.1:c.1991_2000dup NP_001158188.1:p.Gln667HisfsTer19
NM_005609.2:c.2255_2264dup NP_005600.1:p.Gln755HisfsTer19
NM_005609.3:c.2255_2264dup NP_005600.1:p.Gln755HisfsTer19
NM_005609.4:c.2255_2264dup MANE Select NP_005600.1:p.Gln755HisfsTer19
Search 100 bp 5'
Search 100 bp 3'