Canonical Allele Identifier: CA599803640
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs546747601
gnomAD v2: 11-64520949-G-T
gnomAD v4: 11-64753477-G-T
MyVariant Identifiers: chr11:g.64520949G>T (hg19) chr11:g.64753477G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753477G>T , CM000673.2:g.64753477G>T GRCh38
NC_000011.9:g.64520949G>T , CM000673.1:g.64520949G>T GRCh37
NC_000011.8:g.64277525G>T NCBI36
NG_013018.1:g.12239C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1403+42C>A MANE Select ENSP00000164139.3:n.1403+42C>A
ENST00000164139.3:c.1403+42C>A ENSP00000164139.3:n.1403+42C>A
ENST00000377432.7:c.1139+42C>A ENSP00000366650.3:n.1139+42C>A
NM_001164716.1:c.1139+42C>A NP_001158188.1:n.1139+42C>A
NM_005609.2:c.1403+42C>A NP_005600.1:n.1403+42C>A
NM_005609.3:c.1403+42C>A NP_005600.1:n.1403+42C>A
NM_005609.4:c.1403+42C>A MANE Select NP_005600.1:n.1403+42C>A
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