Canonical Allele Identifier: CA381165452

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64514765C>A (hg19) ; chr11:g.64747293C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747293C>A , CM000673.2:g.64747293C>A	GRCh38
NC_000011.9:g.64514765C>A , CM000673.1:g.64514765C>A	GRCh37
NC_000011.8:g.64271341C>A	NCBI36
NG_007574.1:g.3164G>T , LRG_100:g.3164G>T
NG_013018.1:g.18423G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.2243G>T MANE Select	ENSP00000164139.3:p.Ser748Ile
ENST00000164139.3:c.2243G>T	ENSP00000164139.3:p.Ser748Ile
ENST00000377432.7:c.1979G>T	ENSP00000366650.3:p.Ser660Ile
ENST00000483742.1:n.1596G>T
NM_001164716.1:c.1979G>T	NP_001158188.1:p.Ser660Ile
NM_005609.2:c.2243G>T	NP_005600.1:p.Ser748Ile
NM_005609.3:c.2243G>T	NP_005600.1:p.Ser748Ile
NM_005609.4:c.2243G>T MANE Select	NP_005600.1:p.Ser748Ile