Canonical Allele Identifier: CA2624828344
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50937637-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937637T>G , CM000676.2:g.50937637T>G GRCh38
NC_000014.8:g.51404355T>G , CM000676.1:g.51404355T>G GRCh37
NC_000014.7:g.50474105T>G NCBI36
NG_012796.1:g.11894A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.345+99A>C MANE Select ENSP00000216392.7:n.345+99A>C
ENST00000216392.7:c.345+99A>C ENSP00000216392.7:n.345+99A>C
ENST00000530336.2:n.412+99A>C
ENST00000532462.5:c.345+99A>C ENSP00000431657.1:n.345+99A>C
ENST00000544180.6:c.244-2452A>C ENSP00000443787.1:n.244-2452A>C
NM_001163940.1:c.244-2452A>C NP_001157412.1:n.244-2452A>C
NM_002863.4:c.345+99A>C NP_002854.3:n.345+99A>C
NM_002863.5:c.345+99A>C MANE Select NP_002854.3:n.345+99A>C
NM_001163940.2:c.244-2452A>C NP_001157412.1:n.244-2452A>C
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