Canonical Allele Identifier: CA2614199339

Gene: PYGM

Linked Data

• gnomAD v4: 11-64747021-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747021T>A , CM000673.2:g.64747021T>A	GRCh38
NC_000011.9:g.64514493T>A , CM000673.1:g.64514493T>A	GRCh37
NC_000011.8:g.64271069T>A	NCBI36
NG_007574.1:g.3436A>T , LRG_100:g.3436A>T
NG_013018.1:g.18695A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2313-34A>T MANE Select	ENSP00000164139.3:n.2313-34A>T
ENST00000164139.3:c.2313-34A>T	ENSP00000164139.3:n.2313-34A>T
ENST00000377432.7:c.2049-34A>T	ENSP00000366650.3:n.2049-34A>T
ENST00000483742.1:n.1666-34A>T
NM_001164716.1:c.2049-34A>T	NP_001158188.1:n.2049-34A>T
NM_005609.2:c.2313-34A>T	NP_005600.1:n.2313-34A>T
NM_005609.3:c.2313-34A>T	NP_005600.1:n.2313-34A>T
NM_005609.4:c.2313-34A>T MANE Select	NP_005600.1:n.2313-34A>T