Canonical Allele Identifier: CA381169081

Gene: PYGM

Linked Data

• dbSNP Id: rs763385602
• gnomAD v3: 11-64751399-T-G
• gnomAD v4: 11-64751399-T-G
• MyVariant Identifiers: chr11:g.64518871T>G (hg19) ; chr11:g.64751399T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751399T>G , CM000673.2:g.64751399T>G	GRCh38
NC_000011.9:g.64518871T>G , CM000673.1:g.64518871T>G	GRCh37
NC_000011.8:g.64275447T>G	NCBI36
NG_013018.1:g.14317A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.1895A>C MANE Select	ENSP00000164139.3:p.Asn632Thr
ENST00000164139.3:c.1895A>C	ENSP00000164139.3:p.Asn632Thr
ENST00000377432.7:c.1631A>C	ENSP00000366650.3:p.Asn544Thr
ENST00000462303.1:n.219A>C
NM_001164716.1:c.1631A>C	NP_001158188.1:p.Asn544Thr
NM_005609.2:c.1895A>C	NP_005600.1:p.Asn632Thr
NM_005609.3:c.1895A>C	NP_005600.1:p.Asn632Thr
NM_005609.4:c.1895A>C MANE Select	NP_005600.1:p.Asn632Thr