Canonical Allele Identifier: CA2614192102

Gene: PYGM

Linked Data

• gnomAD v4: 11-64759928-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759928G>A , CM000673.2:g.64759928G>A	GRCh38
NC_000011.9:g.64527400G>A , CM000673.1:g.64527400G>A	GRCh37
NC_000011.8:g.64283976G>A	NCBI36
NG_013018.1:g.5788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-30C>T MANE Select	ENSP00000164139.3:n.-30C>T
ENST00000164139.3:c.-30C>T	ENSP00000164139.3:n.-30C>T
ENST00000377432.7:c.-30C>T	ENSP00000366650.3:n.-30C>T
NM_001164716.1:c.-30C>T	NP_001158188.1:n.-30C>T
NM_005609.2:c.-30C>T	NP_005600.1:n.-30C>T
NM_005609.3:c.-30C>T	NP_005600.1:n.-30C>T
NM_005609.4:c.-30C>T MANE Select	NP_005600.1:n.-30C>T