Canonical Allele Identifier: CA486381930
Gene: PYGL HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.51381479C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50914761C>G , CM000676.2:g.50914761C>G GRCh38
NC_000014.8:g.51381479C>G , CM000676.1:g.51381479C>G GRCh37
NC_000014.7:g.50451229C>G NCBI36
NG_012796.1:g.34770G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.1458G>C MANE Select ENSP00000216392.7:p.Gly486=
ENST00000216392.7:c.1458G>C ENSP00000216392.7:p.Gly486=
ENST00000532462.5:c.1458G>C ENSP00000431657.1:p.Gly486=
ENST00000544180.6:c.1356G>C ENSP00000443787.1:p.Gly452=
NM_001163940.1:c.1356G>C NP_001157412.1:p.Gly452=
NM_002863.4:c.1458G>C NP_002854.3:p.Gly486=
NM_002863.5:c.1458G>C MANE Select NP_002854.3:p.Gly486=
NM_001163940.2:c.1356G>C NP_001157412.1:p.Gly452=
Search 100 bp 5'
Search 100 bp 3'