Canonical Allele Identifier: CA11944481
Gene: SLC25A48 HGNC NCBI

Linked Data

dbSNP Id: rs2344484
gnomAD v2: 5-134876631-A-G
gnomAD v3: 5-135540941-A-G
gnomAD v4: 5-135540941-A-G
MyVariant Identifiers: chr5:g.134876631A>G (hg19) chr5:g.135540941A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135540941A>G , CM000667.2:g.135540941A>G GRCh38
NC_000005.9:g.134876631A>G , CM000667.1:g.134876631A>G GRCh37
NC_000005.8:g.134904530A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000698885.1:n.364+31185A>G
Search 100 bp 5'
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