Canonical Allele Identifier: CA6080384

Gene: PYGM

Linked Data

• ClinVar Variation Id: 2144668
• ClinVar RCV Id: RCV003063050 ; RCV003349001 ; RCV003481374
• dbSNP Id: rs148159796
• ExAC: 11:64527321 C / T
• gnomAD v2: 11-64527321-C-T
• gnomAD v3: 11-64759849-C-T
• gnomAD v4: 11-64759849-C-T
• MyVariant Identifiers: chr11:g.64527321C>T (hg19) ; chr11:g.64759849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759849C>T , CM000673.2:g.64759849C>T	GRCh38
NC_000011.9:g.64527321C>T , CM000673.1:g.64527321C>T	GRCh37
NC_000011.8:g.64283897C>T	NCBI36
NG_013018.1:g.5867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.50G>A MANE Select	ENSP00000164139.3:p.Arg17His
ENST00000164139.3:c.50G>A	ENSP00000164139.3:p.Arg17His
ENST00000377432.7:c.50G>A	ENSP00000366650.3:p.Arg17His
NM_001164716.1:c.50G>A	NP_001158188.1:p.Arg17His
NM_005609.2:c.50G>A	NP_005600.1:p.Arg17His
NM_005609.3:c.50G>A	NP_005600.1:p.Arg17His
NM_005609.4:c.50G>A MANE Select	NP_005600.1:p.Arg17His