Canonical Allele Identifier: CA7183845
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs749285393
ExAC: 14:51404449 T / C
gnomAD v2: 14-51404449-T-C
gnomAD v3: 14-50937731-T-C
gnomAD v4: 14-50937731-T-C
MyVariant Identifiers: chr14:g.51404449T>C (hg19) chr14:g.50937731T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937731T>C , CM000676.2:g.50937731T>C GRCh38
NC_000014.8:g.51404449T>C , CM000676.1:g.51404449T>C GRCh37
NC_000014.7:g.50474199T>C NCBI36
NG_012796.1:g.11800A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.345+5A>G MANE Select ENSP00000216392.7:n.345+5A>G
ENST00000216392.7:c.345+5A>G ENSP00000216392.7:n.345+5A>G
ENST00000530336.2:n.412+5A>G
ENST00000532462.5:c.345+5A>G ENSP00000431657.1:n.345+5A>G
ENST00000544180.6:c.244-2546A>G ENSP00000443787.1:n.244-2546A>G
NM_001163940.1:c.244-2546A>G NP_001157412.1:n.244-2546A>G
NM_002863.4:c.345+5A>G NP_002854.3:n.345+5A>G
NM_002863.5:c.345+5A>G MANE Select NP_002854.3:n.345+5A>G
NM_001163940.2:c.244-2546A>G NP_001157412.1:n.244-2546A>G
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