Canonical Allele Identifier: CA381169286

Gene: PYGM

Linked Data

• MyVariant Identifiers: chr11:g.64518909C>A (hg19) ; chr11:g.64751437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751437C>A , CM000673.2:g.64751437C>A	GRCh38
NC_000011.9:g.64518909C>A , CM000673.1:g.64518909C>A	GRCh37
NC_000011.8:g.64275485C>A	NCBI36
NG_013018.1:g.14279G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1857G>T MANE Select	ENSP00000164139.3:p.Met619Ile
ENST00000164139.3:c.1857G>T	ENSP00000164139.3:p.Met619Ile
ENST00000377432.7:c.1593G>T	ENSP00000366650.3:p.Met531Ile
ENST00000462303.1:n.181G>T
NM_001164716.1:c.1593G>T	NP_001158188.1:p.Met531Ile
NM_005609.2:c.1857G>T	NP_005600.1:p.Met619Ile
NM_005609.3:c.1857G>T	NP_005600.1:p.Met619Ile
NM_005609.4:c.1857G>T MANE Select	NP_005600.1:p.Met619Ile