Canonical Allele Identifier: CA706605640
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs1281296466
MyVariant Identifiers: chr14:g.51378288G>T (hg19) chr14:g.50911570G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50911570G>T , CM000676.2:g.50911570G>T GRCh38
NC_000014.8:g.51378288G>T , CM000676.1:g.51378288G>T GRCh37
NC_000014.7:g.50448038G>T NCBI36
NG_012796.1:g.37961C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1969+160C>A MANE Select ENSP00000216392.7:n.1969+160C>A
ENST00000216392.7:c.1969+160C>A ENSP00000216392.7:n.1969+160C>A
ENST00000532107.2:n.142+160C>A
ENST00000532462.5:c.1969+160C>A ENSP00000431657.1:n.1969+160C>A
ENST00000544180.6:c.1867+160C>A ENSP00000443787.1:n.1867+160C>A
NM_001163940.1:c.1867+160C>A NP_001157412.1:n.1867+160C>A
NM_002863.4:c.1969+160C>A NP_002854.3:n.1969+160C>A
NM_002863.5:c.1969+160C>A MANE Select NP_002854.3:n.1969+160C>A
NM_001163940.2:c.1867+160C>A NP_001157412.1:n.1867+160C>A
Search 100 bp 5'
Search 100 bp 3'