Canonical Allele Identifier: CA6079854

Gene: PYGM

Linked Data

• ClinVar Variation Id: 1105330
• ClinVar RCV Id: RCV001429682
• dbSNP Id: rs149123972
• ExAC: 11:64520608 G / A
• gnomAD v2: 11-64520608-G-A
• gnomAD v3: 11-64753136-G-A
• gnomAD v4: 11-64753136-G-A
• MyVariant Identifiers: chr11:g.64520608G>A (hg19) ; chr11:g.64753136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753136G>A , CM000673.2:g.64753136G>A	GRCh38
NC_000011.9:g.64520608G>A , CM000673.1:g.64520608G>A	GRCh37
NC_000011.8:g.64277184G>A	NCBI36
NG_013018.1:g.12580C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.1455C>T MANE Select	ENSP00000164139.3:p.Asn485=
ENST00000164139.3:c.1455C>T	ENSP00000164139.3:p.Asn485=
ENST00000377432.7:c.1191C>T	ENSP00000366650.3:p.Asn397=
NM_001164716.1:c.1191C>T	NP_001158188.1:p.Asn397=
NM_005609.2:c.1455C>T	NP_005600.1:p.Asn485=
NM_005609.3:c.1455C>T	NP_005600.1:p.Asn485=
NM_005609.4:c.1455C>T MANE Select	NP_005600.1:p.Asn485=