Canonical Allele Identifier: CA381169336

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64518916G>T (hg19) ; chr11:g.64751444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751444G>T , CM000673.2:g.64751444G>T	GRCh38
NC_000011.9:g.64518916G>T , CM000673.1:g.64518916G>T	GRCh37
NC_000011.8:g.64275492G>T	NCBI36
NG_013018.1:g.14272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1850C>A MANE Select	ENSP00000164139.3:p.Ala617Asp
ENST00000164139.3:c.1850C>A	ENSP00000164139.3:p.Ala617Asp
ENST00000377432.7:c.1586C>A	ENSP00000366650.3:p.Ala529Asp
ENST00000462303.1:n.174C>A
NM_001164716.1:c.1586C>A	NP_001158188.1:p.Ala529Asp
NM_005609.2:c.1850C>A	NP_005600.1:p.Ala617Asp
NM_005609.3:c.1850C>A	NP_005600.1:p.Ala617Asp
NM_005609.4:c.1850C>A MANE Select	NP_005600.1:p.Ala617Asp