Canonical Allele Identifier: CA2136421543
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs2050494508
gnomAD v4: 14-50920953-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50920953C>T , CM000676.2:g.50920953C>T GRCh38
NC_000014.8:g.51387671C>T , CM000676.1:g.51387671C>T GRCh37
NC_000014.7:g.50457421C>T NCBI36
NG_012796.1:g.28578G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.772+3G>A MANE Select ENSP00000216392.7:n.772+3G>A
ENST00000216392.7:c.772+3G>A ENSP00000216392.7:n.772+3G>A
ENST00000532462.5:c.772+3G>A ENSP00000431657.1:n.772+3G>A
ENST00000544180.6:c.670+3G>A ENSP00000443787.1:n.670+3G>A
ENST00000553872.1:n.573+3G>A
NM_001163940.1:c.670+3G>A NP_001157412.1:n.670+3G>A
NM_002863.4:c.772+3G>A NP_002854.3:n.772+3G>A
NM_002863.5:c.772+3G>A MANE Select NP_002854.3:n.772+3G>A
NM_001163940.2:c.670+3G>A NP_001157412.1:n.670+3G>A
Search 100 bp 5'
Search 100 bp 3'