Canonical Allele Identifier: CA486376010
Gene: PYGL HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.51376783A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50910065A>T , CM000676.2:g.50910065A>T GRCh38
NC_000014.8:g.51376783A>T , CM000676.1:g.51376783A>T GRCh37
NC_000014.7:g.50446533A>T NCBI36
NG_012796.1:g.39466T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.2007T>A MANE Select ENSP00000216392.7:p.Thr669=
ENST00000216392.7:c.2007T>A ENSP00000216392.7:p.Thr669=
ENST00000532107.2:n.180T>A
ENST00000532462.5:c.2007T>A ENSP00000431657.1:p.Thr669=
ENST00000544180.6:c.1905T>A ENSP00000443787.1:p.Thr635=
NM_001163940.1:c.1905T>A NP_001157412.1:p.Thr635=
NM_002863.4:c.2007T>A NP_002854.3:p.Thr669=
NM_002863.5:c.2007T>A MANE Select NP_002854.3:p.Thr669=
NM_001163940.2:c.1905T>A NP_001157412.1:p.Thr635=
Search 100 bp 5'
Search 100 bp 3'