Canonical Allele Identifier: CA486653897
Gene: PYGL HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.51411089C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944371C>A , CM000676.2:g.50944371C>A GRCh38
NC_000014.8:g.51411089C>A , CM000676.1:g.51411089C>A GRCh37
NC_000014.7:g.50480839C>A NCBI36
NG_012796.1:g.5160G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.33G>T MANE Select ENSP00000216392.7:p.Arg11=
ENST00000216392.7:c.33G>T ENSP00000216392.7:p.Arg11=
ENST00000530336.2:n.100G>T
ENST00000532462.5:c.33G>T ENSP00000431657.1:p.Arg11=
ENST00000544180.6:c.33G>T ENSP00000443787.1:p.Arg11=
NM_001163940.1:c.33G>T NP_001157412.1:p.Arg11=
NM_002863.4:c.33G>T NP_002854.3:p.Arg11=
NM_002863.5:c.33G>T MANE Select NP_002854.3:p.Arg11=
NM_001163940.2:c.33G>T NP_001157412.1:p.Arg11=
Search 100 bp 5'
Search 100 bp 3'