Canonical Allele Identifier: CA223895031

Gene: PYGM

Linked Data

• dbSNP Id: rs929127707
• gnomAD v4: 11-64747418-G-A
• MyVariant Identifiers: chr11:g.64514890G>A (hg19) ; chr11:g.64747418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747418G>A , CM000673.2:g.64747418G>A	GRCh38
NC_000011.9:g.64514890G>A , CM000673.1:g.64514890G>A	GRCh37
NC_000011.8:g.64271466G>A	NCBI36
NG_007574.1:g.3039C>T , LRG_100:g.3039C>T
NG_013018.1:g.18298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-60C>T MANE Select	ENSP00000164139.3:n.2178-60C>T
ENST00000164139.3:c.2178-60C>T	ENSP00000164139.3:n.2178-60C>T
ENST00000377432.7:c.1914-60C>T	ENSP00000366650.3:n.1914-60C>T
ENST00000483742.1:n.1471C>T
NM_001164716.1:c.1914-60C>T	NP_001158188.1:n.1914-60C>T
NM_005609.2:c.2178-60C>T	NP_005600.1:n.2178-60C>T
NM_005609.3:c.2178-60C>T	NP_005600.1:n.2178-60C>T
NM_005609.4:c.2178-60C>T MANE Select	NP_005600.1:n.2178-60C>T