Canonical Allele Identifier: CA6079695

Gene: PYGM

Linked Data

• ClinVar Variation Id: 1570198
• ClinVar RCV Id: RCV002213481
• dbSNP Id: rs552502008
• ExAC: 11:64518921 G / A
• gnomAD v2: 11-64518921-G-A
• gnomAD v3: 11-64751449-G-A
• gnomAD v4: 11-64751449-G-A
• MyVariant Identifiers: chr11:g.64518921G>A (hg19) ; chr11:g.64751449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751449G>A , CM000673.2:g.64751449G>A	GRCh38
NC_000011.9:g.64518921G>A , CM000673.1:g.64518921G>A	GRCh37
NC_000011.8:g.64275497G>A	NCBI36
NG_013018.1:g.14267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1845C>T MANE Select	ENSP00000164139.3:p.His615=
ENST00000164139.3:c.1845C>T	ENSP00000164139.3:p.His615=
ENST00000377432.7:c.1581C>T	ENSP00000366650.3:p.His527=
ENST00000462303.1:n.169C>T
NM_001164716.1:c.1581C>T	NP_001158188.1:p.His527=
NM_005609.2:c.1845C>T	NP_005600.1:p.His615=
NM_005609.3:c.1845C>T	NP_005600.1:p.His615=
NM_005609.4:c.1845C>T MANE Select	NP_005600.1:p.His615=