Canonical Allele Identifier: CA381168595

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64518806C>T (hg19) ; chr11:g.64751334C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751334C>T , CM000673.2:g.64751334C>T	GRCh38
NC_000011.9:g.64518806C>T , CM000673.1:g.64518806C>T	GRCh37
NC_000011.8:g.64275382C>T	NCBI36
NG_013018.1:g.14382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1960G>A MANE Select	ENSP00000164139.3:p.Ala654Thr
ENST00000164139.3:c.1960G>A	ENSP00000164139.3:p.Ala654Thr
ENST00000377432.7:c.1696G>A	ENSP00000366650.3:p.Ala566Thr
ENST00000462303.1:n.284G>A
NM_001164716.1:c.1696G>A	NP_001158188.1:p.Ala566Thr
NM_005609.2:c.1960G>A	NP_005600.1:p.Ala654Thr
NM_005609.3:c.1960G>A	NP_005600.1:p.Ala654Thr
NM_005609.4:c.1960G>A MANE Select	NP_005600.1:p.Ala654Thr