Canonical Allele Identifier: CA474958920

Gene: PYGM

Linked Data

• ClinVar Variation Id: 2863385
• ClinVar RCV Id: RCV003602552
• MyVariant Identifiers: chr11:g.64518924G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751452G>A , CM000673.2:g.64751452G>A	GRCh38
NC_000011.9:g.64518924G>A , CM000673.1:g.64518924G>A	GRCh37
NC_000011.8:g.64275500G>A	NCBI36
NG_013018.1:g.14264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1842C>T MANE Select	ENSP00000164139.3:p.Tyr614=
ENST00000164139.3:c.1842C>T	ENSP00000164139.3:p.Tyr614=
ENST00000377432.7:c.1578C>T	ENSP00000366650.3:p.Tyr526=
ENST00000462303.1:n.166C>T
NM_001164716.1:c.1578C>T	NP_001158188.1:p.Tyr526=
NM_005609.2:c.1842C>T	NP_005600.1:p.Tyr614=
NM_005609.3:c.1842C>T	NP_005600.1:p.Tyr614=
NM_005609.4:c.1842C>T MANE Select	NP_005600.1:p.Tyr614=