Canonical Allele Identifier: CA381167967
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64750494-C-T
MyVariant Identifiers: chr11:g.64517966C>T (hg19) chr11:g.64750494C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750494C>T , CM000673.2:g.64750494C>T GRCh38
NC_000011.9:g.64517966C>T , CM000673.1:g.64517966C>T GRCh37
NC_000011.8:g.64274542C>T NCBI36
NG_013018.1:g.15222G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2059G>A MANE Select ENSP00000164139.3:p.Ala687Thr
ENST00000164139.3:c.2059G>A ENSP00000164139.3:p.Ala687Thr
ENST00000377432.7:c.1795G>A ENSP00000366650.3:p.Ala599Thr
NM_001164716.1:c.1795G>A NP_001158188.1:p.Ala599Thr
NM_005609.2:c.2059G>A NP_005600.1:p.Ala687Thr
NM_005609.3:c.2059G>A NP_005600.1:p.Ala687Thr
NM_005609.4:c.2059G>A MANE Select NP_005600.1:p.Ala687Thr
Search 100 bp 5'
Search 100 bp 3'