Canonical Allele Identifier: CA6079683

Gene: PYGM

Linked Data

• ClinVar Variation Id: 496875
• ClinVar RCV Id: RCV000596502 ; RCV000837922 ; RCV001088368 ; RCV002532359
• dbSNP Id: rs115347245
• ExAC: 11:64518878 C / T
• gnomAD v2: 11-64518878-C-T
• gnomAD v3: 11-64751406-C-T
• gnomAD v4: 11-64751406-C-T
• MyVariant Identifiers: chr11:g.64518878C>T (hg19) ; chr11:g.64751406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751406C>T , CM000673.2:g.64751406C>T	GRCh38
NC_000011.9:g.64518878C>T , CM000673.1:g.64518878C>T	GRCh37
NC_000011.8:g.64275454C>T	NCBI36
NG_013018.1:g.14310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1888G>A MANE Select	ENSP00000164139.3:p.Val630Met
ENST00000164139.3:c.1888G>A	ENSP00000164139.3:p.Val630Met
ENST00000377432.7:c.1624G>A	ENSP00000366650.3:p.Val542Met
ENST00000462303.1:n.212G>A
NM_001164716.1:c.1624G>A	NP_001158188.1:p.Val542Met
NM_005609.2:c.1888G>A	NP_005600.1:p.Val630Met
NM_005609.3:c.1888G>A	NP_005600.1:p.Val630Met
NM_005609.4:c.1888G>A MANE Select	NP_005600.1:p.Val630Met