Canonical Allele Identifier: CA381167618
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64750428-A-G
MyVariant Identifiers: chr11:g.64517900A>G (hg19) chr11:g.64750428A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750428A>G , CM000673.2:g.64750428A>G GRCh38
NC_000011.9:g.64517900A>G , CM000673.1:g.64517900A>G GRCh37
NC_000011.8:g.64274476A>G NCBI36
NG_007574.1:g.29T>C , LRG_100:g.29T>C
NG_013018.1:g.15288T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2125T>C MANE Select ENSP00000164139.3:p.Phe709Leu
ENST00000164139.3:c.2125T>C ENSP00000164139.3:p.Phe709Leu
ENST00000377432.7:c.1861T>C ENSP00000366650.3:p.Phe621Leu
NM_001164716.1:c.1861T>C NP_001158188.1:p.Phe621Leu
NM_005609.2:c.2125T>C NP_005600.1:p.Phe709Leu
NM_005609.3:c.2125T>C NP_005600.1:p.Phe709Leu
NM_005609.4:c.2125T>C MANE Select NP_005600.1:p.Phe709Leu
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