Allele Registry

Canonical Allele Identifier: CA11944481

Gene: SLC25A48 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr5:g.135540941A>G

GRCh37 chr5:g.134876631A>G

Linked Data - Sequence & Population

gnomAD v2:

5:134876631 A / G

gnomAD v3:

5:135540941 A / G

gnomAD v4:

chr5-135540941-A-G

Joint Max Group AF 0.7651695 (AFR)

Genomes Max Group AF 0.7651695 (AFR)

Linked Data - NCBI & NCI

dbSNP:

2344484

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

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