Canonical Allele Identifier: CA389699208
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1296507821
gnomAD v2: 14-51410913-C-A
gnomAD v3: 14-50944195-C-A
gnomAD v4: 14-50944195-C-A
MyVariant Identifiers: chr14:g.51410913C>A (hg19) chr14:g.50944195C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944195C>A , CM000676.2:g.50944195C>A GRCh38
NC_000014.8:g.51410913C>A , CM000676.1:g.51410913C>A GRCh37
NC_000014.7:g.50480663C>A NCBI36
NG_012796.1:g.5336G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.209G>T MANE Select ENSP00000216392.7:p.Arg70Leu
ENST00000216392.7:c.209G>T ENSP00000216392.7:p.Arg70Leu
ENST00000530336.2:n.276G>T
ENST00000532462.5:c.209G>T ENSP00000431657.1:p.Arg70Leu
ENST00000544180.6:c.209G>T ENSP00000443787.1:p.Arg70Leu
NM_001163940.1:c.209G>T NP_001157412.1:p.Arg70Leu
NM_002863.4:c.209G>T NP_002854.3:p.Arg70Leu
NM_002863.5:c.209G>T MANE Select NP_002854.3:p.Arg70Leu
NM_001163940.2:c.209G>T NP_001157412.1:p.Arg70Leu
Search 100 bp 5'
Search 100 bp 3'