Canonical Allele Identifier: CA486375997
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs2142788592
MyVariant Identifiers: chr14:g.51376780T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50910062T>G , CM000676.2:g.50910062T>G GRCh38
NC_000014.8:g.51376780T>G , CM000676.1:g.51376780T>G GRCh37
NC_000014.7:g.50446530T>G NCBI36
NG_012796.1:g.39469A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.2010A>C MANE Select ENSP00000216392.7:p.Ala670=
ENST00000216392.7:c.2010A>C ENSP00000216392.7:p.Ala670=
ENST00000532107.2:n.183A>C
ENST00000532462.5:c.2010A>C ENSP00000431657.1:p.Ala670=
ENST00000544180.6:c.1908A>C ENSP00000443787.1:p.Ala636=
NM_001163940.1:c.1908A>C NP_001157412.1:p.Ala636=
NM_002863.4:c.2010A>C NP_002854.3:p.Ala670=
NM_002863.5:c.2010A>C MANE Select NP_002854.3:p.Ala670=
NM_001163940.2:c.1908A>C NP_001157412.1:p.Ala636=
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