Canonical Allele Identifier: CA1978918769

Gene: PYGM

Linked Data

• dbSNP Id: rs2058317495

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747127dup , CM000673.2:g.64747127dup	GRCh38
NC_000011.9:g.64514599dup , CM000673.1:g.64514599dup	GRCh37
NC_000011.8:g.64271175dup	NCBI36
NG_007574.1:g.3331dup , LRG_100:g.3331dup
NG_013018.1:g.18590dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2312+98dup MANE Select	ENSP00000164139.3:n.2312+98dup
ENST00000164139.3:c.2312+98dup	ENSP00000164139.3:n.2312+98dup
ENST00000377432.7:c.2048+98dup	ENSP00000366650.3:n.2048+98dup
ENST00000483742.1:n.1665+98dup
NM_001164716.1:c.2048+98dup	NP_001158188.1:n.2048+98dup
NM_005609.2:c.2312+98dup	NP_005600.1:n.2312+98dup
NM_005609.3:c.2312+98dup	NP_005600.1:n.2312+98dup
NM_005609.4:c.2312+98dup MANE Select	NP_005600.1:n.2312+98dup