Canonical Allele Identifier: CA241398445
Gene: PGAM1P5 HGNC NCBI

Linked Data

dbSNP Id: rs186646240
gnomAD v2: 12-95959697-T-C
gnomAD v3: 12-95565921-T-C
gnomAD v4: 12-95565921-T-C
MyVariant Identifiers: chr12:g.95959697T>C (hg19) chr12:g.95565921T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95565921T>C , CM000674.2:g.95565921T>C GRCh38
NC_000012.11:g.95959697T>C , CM000674.1:g.95959697T>C GRCh37
NC_000012.10:g.94483828T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000626376.2:n.219+14121T>C
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