Canonical Allele Identifier: CA223899753

Gene: PYGM

Linked Data

• dbSNP Id: rs925173199
• gnomAD v2: 11-64520475-A-G
• gnomAD v3: 11-64753003-A-G
• gnomAD v4: 11-64753003-A-G
• MyVariant Identifiers: chr11:g.64520475A>G (hg19) ; chr11:g.64753003A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753003A>G , CM000673.2:g.64753003A>G	GRCh38
NC_000011.9:g.64520475A>G , CM000673.1:g.64520475A>G	GRCh37
NC_000011.8:g.64277051A>G	NCBI36
NG_013018.1:g.12713T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1518+70T>C MANE Select	ENSP00000164139.3:n.1518+70T>C
ENST00000164139.3:c.1518+70T>C	ENSP00000164139.3:n.1518+70T>C
ENST00000377432.7:c.1254+70T>C	ENSP00000366650.3:n.1254+70T>C
NM_001164716.1:c.1254+70T>C	NP_001158188.1:n.1254+70T>C
NM_005609.2:c.1518+70T>C	NP_005600.1:n.1518+70T>C
NM_005609.3:c.1518+70T>C	NP_005600.1:n.1518+70T>C
NM_005609.4:c.1518+70T>C MANE Select	NP_005600.1:n.1518+70T>C