Canonical Allele Identifier: CA381167591
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64517895G>C (hg19) chr11:g.64750423G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750423G>C , CM000673.2:g.64750423G>C GRCh38
NC_000011.9:g.64517895G>C , CM000673.1:g.64517895G>C GRCh37
NC_000011.8:g.64274471G>C NCBI36
NG_007574.1:g.34C>G , LRG_100:g.34C>G
NG_013018.1:g.15293C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2130C>G MANE Select ENSP00000164139.3:p.Phe710Leu
ENST00000164139.3:c.2130C>G ENSP00000164139.3:p.Phe710Leu
ENST00000377432.7:c.1866C>G ENSP00000366650.3:p.Phe622Leu
NM_001164716.1:c.1866C>G NP_001158188.1:p.Phe622Leu
NM_005609.2:c.2130C>G NP_005600.1:p.Phe710Leu
NM_005609.3:c.2130C>G NP_005600.1:p.Phe710Leu
NM_005609.4:c.2130C>G MANE Select NP_005600.1:p.Phe710Leu
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