Canonical Allele Identifier: CA599653058

Gene: PYGM

Linked Data

• dbSNP Id: rs1395562764
• gnomAD v2: 11-64518753-G-A
• MyVariant Identifiers: chr11:g.64518753G>A (hg19) ; chr11:g.64751281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751281G>A , CM000673.2:g.64751281G>A	GRCh38
NC_000011.9:g.64518753G>A , CM000673.1:g.64518753G>A	GRCh37
NC_000011.8:g.64275329G>A	NCBI36
NG_013018.1:g.14435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1969+44C>T MANE Select	ENSP00000164139.3:n.1969+44C>T
ENST00000164139.3:c.1969+44C>T	ENSP00000164139.3:n.1969+44C>T
ENST00000377432.7:c.1705+44C>T	ENSP00000366650.3:n.1705+44C>T
ENST00000462303.1:n.337C>T
NM_001164716.1:c.1705+44C>T	NP_001158188.1:n.1705+44C>T
NM_005609.2:c.1969+44C>T	NP_005600.1:n.1969+44C>T
NM_005609.3:c.1969+44C>T	NP_005600.1:n.1969+44C>T
NM_005609.4:c.1969+44C>T MANE Select	NP_005600.1:n.1969+44C>T