Canonical Allele Identifier: CA445964605

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 1453920
• ClinVar RCV Id: RCV001941616
• dbSNP Id: rs1800248230
• gnomAD v4: 5-110761453-T-C
• MyVariant Identifiers: chr5:g.110097153T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761453T>C , CM000667.2:g.110761453T>C	GRCh38
NC_000005.9:g.110097153T>C , CM000667.1:g.110097153T>C	GRCh37
NC_000005.8:g.110125052T>C	NCBI36
NG_051334.1:g.28318T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.928T>C MANE Select	ENSP00000348211.3:p.Leu310=
ENST00000355943.7:c.928T>C	ENSP00000348211.3:p.Leu310=
ENST00000447245.6:c.685T>C	ENSP00000399717.2:p.Leu229=
ENST00000502462.6:n.1244T>C
ENST00000504098.1:c.490T>C	ENSP00000425708.1:p.Leu164=
ENST00000509432.1:c.289T>C	ENSP00000426604.1:p.Leu97=
ENST00000513706.2:n.2528T>C
ENST00000513807.5:c.442T>C	ENSP00000421134.1:p.Leu148=
NM_001303249.1:c.685T>C	NP_001290178.1:p.Leu229=
NM_001303250.1:c.655T>C	NP_001290179.1:p.Leu219=
NM_138773.2:c.928T>C	NP_620128.1:p.Leu310=
NM_001303249.2:c.685T>C	NP_001290178.1:p.Leu229=
NM_001303250.2:c.655T>C	NP_001290179.1:p.Leu219=
NM_138773.3:c.928T>C	NP_620128.1:p.Leu310=
NR_138151.1:n.1202T>C
NM_138773.4:c.928T>C MANE Select	NP_620128.1:p.Leu310=
NM_001303249.3:c.685T>C	NP_001290178.1:p.Leu229=
NM_001303250.3:c.655T>C	NP_001290179.1:p.Leu219=
NR_138151.2:n.1167T>C