Canonical Allele Identifier: CA2838508355
Gene: SLC25A48 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135785672G>A , CM000667.2:g.135785672G>A GRCh38
NC_000005.9:g.135121361G>A , CM000667.1:g.135121361G>A GRCh37
NC_000005.8:g.135149260G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000698885.1:n.460+24553G>A
ENST00000698886.1:n.752-26851G>A
ENST00000646290.1:c.-520-26851G>A ENSP00000493514.1:n.-520-26851G>A
ENST00000647391.1:n.970-26851G>A
NM_001349335.1:c.-520-26851G>A NP_001336264.1:n.-520-26851G>A
NM_001349345.1:c.-520-26851G>A NP_001336274.1:n.-520-26851G>A
NM_001349345.2:c.-520-26851G>A NP_001336274.1:n.-520-26851G>A
NM_001349335.2:c.-520-26851G>A NP_001336264.1:n.-520-26851G>A
Search 100 bp 5'
Search 100 bp 3'