Canonical Allele Identifier: CA2624830110
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50944497-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944497C>A , CM000676.2:g.50944497C>A GRCh38
NC_000014.8:g.51411215C>A , CM000676.1:g.51411215C>A GRCh37
NC_000014.7:g.50480965C>A NCBI36
NG_012796.1:g.5034G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.7:c.-94G>T ENSP00000216392.7:n.-94G>T
NM_001163940.1:c.-94G>T NP_001157412.1:n.-94G>T
NM_002863.4:c.-94G>T NP_002854.3:n.-94G>T
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