Canonical Allele Identifier: CA963069678
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1454936246
gnomAD v3: 14-50910114-G-A
gnomAD v4: 14-50910114-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50910114G>A , CM000676.2:g.50910114G>A GRCh38
NC_000014.8:g.51376832G>A , CM000676.1:g.51376832G>A GRCh37
NC_000014.7:g.50446582G>A NCBI36
NG_012796.1:g.39417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1970-12C>T MANE Select ENSP00000216392.7:n.1970-12C>T
ENST00000216392.7:c.1970-12C>T ENSP00000216392.7:n.1970-12C>T
ENST00000532107.2:n.143-12C>T
ENST00000532462.5:c.1970-12C>T ENSP00000431657.1:n.1970-12C>T
ENST00000544180.6:c.1868-12C>T ENSP00000443787.1:n.1868-12C>T
NM_001163940.1:c.1868-12C>T NP_001157412.1:n.1868-12C>T
NM_002863.4:c.1970-12C>T NP_002854.3:n.1970-12C>T
NM_002863.5:c.1970-12C>T MANE Select NP_002854.3:n.1970-12C>T
NM_001163940.2:c.1868-12C>T NP_001157412.1:n.1868-12C>T
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