Canonical Allele Identifier: CA128518661

Gene: SLC25A48

Linked Data

• dbSNP Id: rs1010504169
• gnomAD v3: 5-135541002-T-A
• gnomAD v4: 5-135541002-T-A
• MyVariant Identifiers: chr5:g.134876692T>A (hg19) ; chr5:g.135541002T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135541002T>A , CM000667.2:g.135541002T>A	GRCh38
NC_000005.9:g.134876692T>A , CM000667.1:g.134876692T>A	GRCh37
NC_000005.8:g.134904591T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000698885.1:n.364+31246T>A