Canonical Allele Identifier: CA2739270502
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2875913
ClinVar RCV Id: RCV003602736
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747003T>G , CM000673.2:g.64747003T>G GRCh38
NC_000011.9:g.64514475T>G , CM000673.1:g.64514475T>G GRCh37
NC_000011.8:g.64271051T>G NCBI36
NG_007574.1:g.3454A>C , LRG_100:g.3454A>C
NG_013018.1:g.18713A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2313-16A>C MANE Select ENSP00000164139.3:n.2313-16A>C
ENST00000164139.3:c.2313-16A>C ENSP00000164139.3:n.2313-16A>C
ENST00000377432.7:c.2049-16A>C ENSP00000366650.3:n.2049-16A>C
ENST00000483742.1:n.1666-16A>C
NM_001164716.1:c.2049-16A>C NP_001158188.1:n.2049-16A>C
NM_005609.2:c.2313-16A>C NP_005600.1:n.2313-16A>C
NM_005609.3:c.2313-16A>C NP_005600.1:n.2313-16A>C
NM_005609.4:c.2313-16A>C MANE Select NP_005600.1:n.2313-16A>C
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