Canonical Allele Identifier: CA360696493

Gene: SLC25A46

Linked Data

• dbSNP Id: rs777447707
• gnomAD v4: 5-110761452-G-A
• MyVariant Identifiers: chr5:g.110097152G>A (hg19) ; chr5:g.110761452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761452G>A , CM000667.2:g.110761452G>A	GRCh38
NC_000005.9:g.110097152G>A , CM000667.1:g.110097152G>A	GRCh37
NC_000005.8:g.110125051G>A	NCBI36
NG_051334.1:g.28317G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.927G>A MANE Select	ENSP00000348211.3:p.Met309Ile
ENST00000355943.7:c.927G>A	ENSP00000348211.3:p.Met309Ile
ENST00000447245.6:c.684G>A	ENSP00000399717.2:p.Met228Ile
ENST00000502462.6:n.1243G>A
ENST00000504098.1:c.489G>A	ENSP00000425708.1:p.Met163Ile
ENST00000509432.1:c.288G>A	ENSP00000426604.1:p.Met96Ile
ENST00000513706.2:n.2527G>A
ENST00000513807.5:c.441G>A	ENSP00000421134.1:p.Met147Ile
NM_001303249.1:c.684G>A	NP_001290178.1:p.Met228Ile
NM_001303250.1:c.654G>A	NP_001290179.1:p.Met218Ile
NM_138773.2:c.927G>A	NP_620128.1:p.Met309Ile
NM_001303249.2:c.684G>A	NP_001290178.1:p.Met228Ile
NM_001303250.2:c.654G>A	NP_001290179.1:p.Met218Ile
NM_138773.3:c.927G>A	NP_620128.1:p.Met309Ile
NR_138151.1:n.1201G>A
NM_138773.4:c.927G>A MANE Select	NP_620128.1:p.Met309Ile
NM_001303249.3:c.684G>A	NP_001290178.1:p.Met228Ile
NM_001303250.3:c.654G>A	NP_001290179.1:p.Met218Ile
NR_138151.2:n.1166G>A