Canonical Allele Identifier: CA1978928686

Gene: PYGM

Linked Data

• dbSNP Id: rs562115159

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758730G>A , CM000673.2:g.64758730G>A	GRCh38
NC_000011.9:g.64526202G>A , CM000673.1:g.64526202G>A	GRCh37
NC_000011.8:g.64282778G>A	NCBI36
NG_013018.1:g.6986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.244-26C>T MANE Select	ENSP00000164139.3:n.244-26C>T
ENST00000164139.3:c.244-26C>T	ENSP00000164139.3:n.244-26C>T
ENST00000377432.7:c.244-464C>T	ENSP00000366650.3:n.244-464C>T
NM_001164716.1:c.244-464C>T	NP_001158188.1:n.244-464C>T
NM_005609.2:c.244-26C>T	NP_005600.1:n.244-26C>T
NM_005609.3:c.244-26C>T	NP_005600.1:n.244-26C>T
NM_005609.4:c.244-26C>T MANE Select	NP_005600.1:n.244-26C>T