Canonical Allele Identifier: CA679271461
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1203137990
gnomAD v3: 11-64751841-G-T
gnomAD v4: 11-64751841-G-T
MyVariant Identifiers: chr11:g.64519313G>T (hg19) chr11:g.64751841G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751841G>T , CM000673.2:g.64751841G>T GRCh38
NC_000011.9:g.64519313G>T , CM000673.1:g.64519313G>T GRCh37
NC_000011.8:g.64275889G>T NCBI36
NG_013018.1:g.13875C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1768+83C>A MANE Select ENSP00000164139.3:n.1768+83C>A
ENST00000164139.3:c.1768+83C>A ENSP00000164139.3:n.1768+83C>A
ENST00000377432.7:c.1504+83C>A ENSP00000366650.3:n.1504+83C>A
ENST00000462303.1:n.92+83C>A
NM_001164716.1:c.1504+83C>A NP_001158188.1:n.1504+83C>A
NM_005609.2:c.1768+83C>A NP_005600.1:n.1768+83C>A
NM_005609.3:c.1768+83C>A NP_005600.1:n.1768+83C>A
NM_005609.4:c.1768+83C>A MANE Select NP_005600.1:n.1768+83C>A
Search 100 bp 5'
Search 100 bp 3'