Canonical Allele Identifier: CA2624828433
Gene: PYGL HGNC NCBI

Linked Data

gnomAD v4: 14-50937702-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937702G>T , CM000676.2:g.50937702G>T GRCh38
NC_000014.8:g.51404420G>T , CM000676.1:g.51404420G>T GRCh37
NC_000014.7:g.50474170G>T NCBI36
NG_012796.1:g.11829C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.345+34C>A MANE Select ENSP00000216392.7:n.345+34C>A
ENST00000216392.7:c.345+34C>A ENSP00000216392.7:n.345+34C>A
ENST00000530336.2:n.412+34C>A
ENST00000532462.5:c.345+34C>A ENSP00000431657.1:n.345+34C>A
ENST00000544180.6:c.244-2517C>A ENSP00000443787.1:n.244-2517C>A
NM_001163940.1:c.244-2517C>A NP_001157412.1:n.244-2517C>A
NM_002863.4:c.345+34C>A NP_002854.3:n.345+34C>A
NM_002863.5:c.345+34C>A MANE Select NP_002854.3:n.345+34C>A
NM_001163940.2:c.244-2517C>A NP_001157412.1:n.244-2517C>A
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