Canonical Allele Identifier: CA1081850217
Gene: SLC25A48 HGNC NCBI

Linked Data

dbSNP Id: rs1750605842
gnomAD v3: 5-135540964-C-T
gnomAD v4: 5-135540964-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135540964C>T , CM000667.2:g.135540964C>T GRCh38
NC_000005.9:g.134876654C>T , CM000667.1:g.134876654C>T GRCh37
NC_000005.8:g.134904553C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000698885.1:n.364+31208C>T
Search 100 bp 5'
Search 100 bp 3'