Canonical Allele Identifier: CA381110871

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64526074C>T (hg19) ; chr11:g.64758602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758602C>T , CM000673.2:g.64758602C>T	GRCh38
NC_000011.9:g.64526074C>T , CM000673.1:g.64526074C>T	GRCh37
NC_000011.8:g.64282650C>T	NCBI36
NG_013018.1:g.7114G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.345+1G>A MANE Select	ENSP00000164139.3:n.345+1G>A
ENST00000164139.3:c.345+1G>A	ENSP00000164139.3:n.345+1G>A
ENST00000377432.7:c.244-336G>A	ENSP00000366650.3:n.244-336G>A
NM_001164716.1:c.244-336G>A	NP_001158188.1:n.244-336G>A
NM_005609.2:c.345+1G>A	NP_005600.1:n.345+1G>A
NM_005609.3:c.345+1G>A	NP_005600.1:n.345+1G>A
NM_005609.4:c.345+1G>A MANE Select	NP_005600.1:n.345+1G>A