Canonical Allele Identifier: CA360696000

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761217-G-C
• MyVariant Identifiers: chr5:g.110096917G>C (hg19) ; chr5:g.110761217G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761217G>C , CM000667.2:g.110761217G>C	GRCh38
NC_000005.9:g.110096917G>C , CM000667.1:g.110096917G>C	GRCh37
NC_000005.8:g.110124816G>C	NCBI36
NG_051334.1:g.28082G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.692G>C MANE Select	ENSP00000348211.3:p.Arg231Pro
ENST00000355943.7:c.692G>C	ENSP00000348211.3:p.Arg231Pro
ENST00000447245.6:c.679-230G>C	ENSP00000399717.2:n.679-230G>C
ENST00000502462.6:n.1008G>C
ENST00000504098.1:c.254G>C	ENSP00000425708.1:p.Arg85Pro
ENST00000509432.1:c.53G>C	ENSP00000426604.1:p.Arg18Pro
ENST00000513706.2:n.2292G>C
ENST00000513807.5:c.206G>C	ENSP00000421134.1:p.Arg69Pro
NM_001303249.1:c.679-230G>C	NP_001290178.1:n.679-230G>C
NM_001303250.1:c.419G>C	NP_001290179.1:p.Arg140Pro
NM_138773.2:c.692G>C	NP_620128.1:p.Arg231Pro
NM_001303249.2:c.679-230G>C	NP_001290178.1:n.679-230G>C
NM_001303250.2:c.419G>C	NP_001290179.1:p.Arg140Pro
NM_138773.3:c.692G>C	NP_620128.1:p.Arg231Pro
NR_138151.1:n.966G>C
NM_138773.4:c.692G>C MANE Select	NP_620128.1:p.Arg231Pro
NM_001303249.3:c.679-230G>C	NP_001290178.1:n.679-230G>C
NM_001303250.3:c.419G>C	NP_001290179.1:p.Arg140Pro
NR_138151.2:n.931G>C