Canonical Allele Identifier: CA381109448

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64525821G>A (hg19) ; chr11:g.64758349G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758349G>A , CM000673.2:g.64758349G>A	GRCh38
NC_000011.9:g.64525821G>A , CM000673.1:g.64525821G>A	GRCh37
NC_000011.8:g.64282397G>A	NCBI36
NG_013018.1:g.7367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.425C>T MANE Select	ENSP00000164139.3:p.Ala142Val
ENST00000164139.3:c.425C>T	ENSP00000164139.3:p.Ala142Val
ENST00000377432.7:c.244-83C>T	ENSP00000366650.3:n.244-83C>T
NM_001164716.1:c.244-83C>T	NP_001158188.1:n.244-83C>T
NM_005609.2:c.425C>T	NP_005600.1:p.Ala142Val
NM_005609.3:c.425C>T	NP_005600.1:p.Ala142Val
NM_005609.4:c.425C>T MANE Select	NP_005600.1:p.Ala142Val