Canonical Allele Identifier: CA223894807

Gene: PYGM

Linked Data

• dbSNP Id: rs1027055126
• gnomAD v3: 11-64747098-G-T
• gnomAD v4: 11-64747098-G-T
• MyVariant Identifiers: chr11:g.64514570G>T (hg19) ; chr11:g.64747098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747098G>T , CM000673.2:g.64747098G>T	GRCh38
NC_000011.9:g.64514570G>T , CM000673.1:g.64514570G>T	GRCh37
NC_000011.8:g.64271146G>T	NCBI36
NG_007574.1:g.3359C>A , LRG_100:g.3359C>A
NG_013018.1:g.18618C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2313-111C>A MANE Select	ENSP00000164139.3:n.2313-111C>A
ENST00000164139.3:c.2313-111C>A	ENSP00000164139.3:n.2313-111C>A
ENST00000377432.7:c.2049-111C>A	ENSP00000366650.3:n.2049-111C>A
ENST00000483742.1:n.1666-111C>A
NM_001164716.1:c.2049-111C>A	NP_001158188.1:n.2049-111C>A
NM_005609.2:c.2313-111C>A	NP_005600.1:n.2313-111C>A
NM_005609.3:c.2313-111C>A	NP_005600.1:n.2313-111C>A
NM_005609.4:c.2313-111C>A MANE Select	NP_005600.1:n.2313-111C>A