Canonical Allele Identifier: CA7183937
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs759554598
ExAC: 14:51411140 C / A
gnomAD v2: 14-51411140-C-A
gnomAD v4: 14-50944422-C-A
MyVariant Identifiers: chr14:g.51411140C>A (hg19) chr14:g.50944422C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50944422C>A , CM000676.2:g.50944422C>A GRCh38
NC_000014.8:g.51411140C>A , CM000676.1:g.51411140C>A GRCh37
NC_000014.7:g.50480890C>A NCBI36
NG_012796.1:g.5109G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.-19G>T MANE Select ENSP00000216392.7:n.-19G>T
ENST00000216392.7:c.-19G>T ENSP00000216392.7:n.-19G>T
ENST00000530336.2:n.49G>T
ENST00000532462.5:c.-19G>T ENSP00000431657.1:n.-19G>T
ENST00000544180.6:c.-19G>T ENSP00000443787.1:n.-19G>T
NM_001163940.1:c.-19G>T NP_001157412.1:n.-19G>T
NM_002863.4:c.-19G>T NP_002854.3:n.-19G>T
NM_002863.5:c.-19G>T MANE Select NP_002854.3:n.-19G>T
NM_001163940.2:c.-19G>T NP_001157412.1:n.-19G>T
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