Canonical Allele Identifier: CA360697958

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 1468753
• ClinVar RCV Id: RCV001970732
• dbSNP Id: rs2150419511
• MyVariant Identifiers: chr5:g.110097472A>C (hg19) ; chr5:g.110761772A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761772A>C , CM000667.2:g.110761772A>C	GRCh38
NC_000005.9:g.110097472A>C , CM000667.1:g.110097472A>C	GRCh37
NC_000005.8:g.110125371A>C	NCBI36
NG_051334.1:g.28637A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1247A>C MANE Select	ENSP00000348211.3:p.Asn416Thr
ENST00000355943.7:c.1247A>C	ENSP00000348211.3:p.Asn416Thr
ENST00000447245.6:c.1004A>C	ENSP00000399717.2:p.Asn335Thr
ENST00000504098.1:c.809A>C	ENSP00000425708.1:p.Asn270Thr
ENST00000509432.1:c.608A>C	ENSP00000426604.1:p.Asn203Thr
ENST00000513706.2:n.2847A>C
ENST00000513807.5:c.761A>C	ENSP00000421134.1:p.Asn254Thr
NM_001303249.1:c.1004A>C	NP_001290178.1:p.Asn335Thr
NM_001303250.1:c.974A>C	NP_001290179.1:p.Asn325Thr
NM_138773.2:c.1247A>C	NP_620128.1:p.Asn416Thr
NM_001303249.2:c.1004A>C	NP_001290178.1:p.Asn335Thr
NM_001303250.2:c.974A>C	NP_001290179.1:p.Asn325Thr
NM_138773.3:c.1247A>C	NP_620128.1:p.Asn416Thr
NR_138151.1:n.1521A>C
NM_138773.4:c.1247A>C MANE Select	NP_620128.1:p.Asn416Thr
NM_001303249.3:c.1004A>C	NP_001290178.1:p.Asn335Thr
NM_001303250.3:c.974A>C	NP_001290179.1:p.Asn325Thr
NR_138151.2:n.1486A>C