Canonical Allele Identifier: CA381169059

Gene: PYGM

Linked Data

• dbSNP Id: rs2058354982
• gnomAD v3: 11-64751397-G-A
• gnomAD v4: 11-64751397-G-A
• MyVariant Identifiers: chr11:g.64518869G>A (hg19) ; chr11:g.64751397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751397G>A , CM000673.2:g.64751397G>A	GRCh38
NC_000011.9:g.64518869G>A , CM000673.1:g.64518869G>A	GRCh37
NC_000011.8:g.64275445G>A	NCBI36
NG_013018.1:g.14319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1897C>T MANE Select	ENSP00000164139.3:p.His633Tyr
ENST00000164139.3:c.1897C>T	ENSP00000164139.3:p.His633Tyr
ENST00000377432.7:c.1633C>T	ENSP00000366650.3:p.His545Tyr
ENST00000462303.1:n.221C>T
NM_001164716.1:c.1633C>T	NP_001158188.1:p.His545Tyr
NM_005609.2:c.1897C>T	NP_005600.1:p.His633Tyr
NM_005609.3:c.1897C>T	NP_005600.1:p.His633Tyr
NM_005609.4:c.1897C>T MANE Select	NP_005600.1:p.His633Tyr