Canonical Allele Identifier: CA474958916

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64518912C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751440C>T , CM000673.2:g.64751440C>T	GRCh38
NC_000011.9:g.64518912C>T , CM000673.1:g.64518912C>T	GRCh37
NC_000011.8:g.64275488C>T	NCBI36
NG_013018.1:g.14276G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1854G>A MANE Select	ENSP00000164139.3:p.Lys618=
ENST00000164139.3:c.1854G>A	ENSP00000164139.3:p.Lys618=
ENST00000377432.7:c.1590G>A	ENSP00000366650.3:p.Lys530=
ENST00000462303.1:n.178G>A
NM_001164716.1:c.1590G>A	NP_001158188.1:p.Lys530=
NM_005609.2:c.1854G>A	NP_005600.1:p.Lys618=
NM_005609.3:c.1854G>A	NP_005600.1:p.Lys618=
NM_005609.4:c.1854G>A MANE Select	NP_005600.1:p.Lys618=