Canonical Allele Identifier: CA128518643

Gene: SLC25A48

Linked Data

• dbSNP Id: rs985941800
• gnomAD v2: 5-134876540-C-T
• gnomAD v3: 5-135540850-C-T
• gnomAD v4: 5-135540850-C-T
• MyVariant Identifiers: chr5:g.134876540C>T (hg19) ; chr5:g.135540850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135540850C>T , CM000667.2:g.135540850C>T	GRCh38
NC_000005.9:g.134876540C>T , CM000667.1:g.134876540C>T	GRCh37
NC_000005.8:g.134904439C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000698885.1:n.364+31094C>T