Canonical Allele Identifier: CA486372023
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1290132222
MyVariant Identifiers: chr14:g.51372125T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905407T>C , CM000676.2:g.50905407T>C GRCh38
NC_000014.8:g.51372125T>C , CM000676.1:g.51372125T>C GRCh37
NC_000014.7:g.50441875T>C NCBI36
NG_012796.1:g.44124A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2529A>G MANE Select ENSP00000216392.7:p.Lys843=
ENST00000216392.7:c.2529A>G ENSP00000216392.7:p.Lys843=
ENST00000532462.5:c.2379+2864A>G ENSP00000431657.1:n.2379+2864A>G
ENST00000544180.6:c.2427A>G ENSP00000443787.1:p.Lys809=
NM_001163940.1:c.2427A>G NP_001157412.1:p.Lys809=
NM_002863.4:c.2529A>G NP_002854.3:p.Lys843=
NM_002863.5:c.2529A>G MANE Select NP_002854.3:p.Lys843=
NM_001163940.2:c.2427A>G NP_001157412.1:p.Lys809=
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