Canonical Allele Identifier: CA2575525093
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50905301-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905301G>T , CM000676.2:g.50905301G>T GRCh38
NC_000014.8:g.51372019G>T , CM000676.1:g.51372019G>T GRCh37
NC_000014.7:g.50441769G>T NCBI36
NG_012796.1:g.44230C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*91C>A MANE Select ENSP00000216392.7:n.*91C>A
ENST00000216392.7:c.*91C>A ENSP00000216392.7:n.*91C>A
ENST00000532462.5:c.2379+2970C>A ENSP00000431657.1:n.2379+2970C>A
ENST00000544180.6:c.*91C>A ENSP00000443787.1:n.*91C>A
NM_001163940.1:c.*91C>A NP_001157412.1:n.*91C>A
NM_002863.4:c.*91C>A NP_002854.3:n.*91C>A
NM_002863.5:c.*91C>A MANE Select NP_002854.3:n.*91C>A
NM_001163940.2:c.*91C>A NP_001157412.1:n.*91C>A
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