Canonical Allele Identifier: CA706601449
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1216598594
gnomAD v3: 14-50905327-A-C
gnomAD v4: 14-50905327-A-C
MyVariant Identifiers: chr14:g.51372045A>C (hg19) chr14:g.50905327A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905327A>C , CM000676.2:g.50905327A>C GRCh38
NC_000014.8:g.51372045A>C , CM000676.1:g.51372045A>C GRCh37
NC_000014.7:g.50441795A>C NCBI36
NG_012796.1:g.44204T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*65T>G MANE Select ENSP00000216392.7:n.*65T>G
ENST00000216392.7:c.*65T>G ENSP00000216392.7:n.*65T>G
ENST00000532462.5:c.2379+2944T>G ENSP00000431657.1:n.2379+2944T>G
ENST00000544180.6:c.*65T>G ENSP00000443787.1:n.*65T>G
NM_001163940.1:c.*65T>G NP_001157412.1:n.*65T>G
NM_002863.4:c.*65T>G NP_002854.3:n.*65T>G
NM_002863.5:c.*65T>G MANE Select NP_002854.3:n.*65T>G
NM_001163940.2:c.*65T>G NP_001157412.1:n.*65T>G
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