Canonical Allele Identifier: CA260818768
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1042266
gnomAD v2: 14-51372103-C-A
gnomAD v3: 14-50905385-C-A
gnomAD v4: 14-50905385-C-A
MyVariant Identifiers: chr14:g.51372103C>A (hg19) chr14:g.50905385C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905385C>A , CM000676.2:g.50905385C>A GRCh38
NC_000014.8:g.51372103C>A , CM000676.1:g.51372103C>A GRCh37
NC_000014.7:g.50441853C>A NCBI36
NG_012796.1:g.44146G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.*7G>T MANE Select ENSP00000216392.7:n.*7G>T
ENST00000216392.7:c.*7G>T ENSP00000216392.7:n.*7G>T
ENST00000532462.5:c.2379+2886G>T ENSP00000431657.1:n.2379+2886G>T
ENST00000544180.6:c.*7G>T ENSP00000443787.1:n.*7G>T
NM_001163940.1:c.*7G>T NP_001157412.1:n.*7G>T
NM_002863.4:c.*7G>T NP_002854.3:n.*7G>T
NM_002863.5:c.*7G>T MANE Select NP_002854.3:n.*7G>T
NM_001163940.2:c.*7G>T NP_001157412.1:n.*7G>T
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