Canonical Allele Identifier: CA474958650
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64517901G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750429G>A , CM000673.2:g.64750429G>A GRCh38
NC_000011.9:g.64517901G>A , CM000673.1:g.64517901G>A GRCh37
NC_000011.8:g.64274477G>A NCBI36
NG_007574.1:g.28C>T , LRG_100:g.28C>T
NG_013018.1:g.15287C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2124C>T MANE Select ENSP00000164139.3:p.Asn708=
ENST00000164139.3:c.2124C>T ENSP00000164139.3:p.Asn708=
ENST00000377432.7:c.1860C>T ENSP00000366650.3:p.Asn620=
NM_001164716.1:c.1860C>T NP_001158188.1:p.Asn620=
NM_005609.2:c.2124C>T NP_005600.1:p.Asn708=
NM_005609.3:c.2124C>T NP_005600.1:p.Asn708=
NM_005609.4:c.2124C>T MANE Select NP_005600.1:p.Asn708=