Canonical Allele Identifier: CA3364729

Gene: SLC25A46

Linked Data

• dbSNP Id: rs778093749
• ExAC: 5:110096953 G / C
• gnomAD v2: 5-110096953-G-C
• gnomAD v4: 5-110761253-G-C
• MyVariant Identifiers: chr5:g.110096953G>C (hg19) ; chr5:g.110761253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761253G>C , CM000667.2:g.110761253G>C	GRCh38
NC_000005.9:g.110096953G>C , CM000667.1:g.110096953G>C	GRCh37
NC_000005.8:g.110124852G>C	NCBI36
NG_051334.1:g.28118G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.728G>C MANE Select	ENSP00000348211.3:p.Gly243Ala
ENST00000355943.7:c.728G>C	ENSP00000348211.3:p.Gly243Ala
ENST00000447245.6:c.679-194G>C	ENSP00000399717.2:n.679-194G>C
ENST00000502462.6:n.1044G>C
ENST00000504098.1:c.290G>C	ENSP00000425708.1:p.Gly97Ala
ENST00000509432.1:c.89G>C	ENSP00000426604.1:p.Gly30Ala
ENST00000513706.2:n.2328G>C
ENST00000513807.5:c.242G>C	ENSP00000421134.1:p.Gly81Ala
NM_001303249.1:c.679-194G>C	NP_001290178.1:n.679-194G>C
NM_001303250.1:c.455G>C	NP_001290179.1:p.Gly152Ala
NM_138773.2:c.728G>C	NP_620128.1:p.Gly243Ala
NM_001303249.2:c.679-194G>C	NP_001290178.1:n.679-194G>C
NM_001303250.2:c.455G>C	NP_001290179.1:p.Gly152Ala
NM_138773.3:c.728G>C	NP_620128.1:p.Gly243Ala
NR_138151.1:n.1002G>C
NM_138773.4:c.728G>C MANE Select	NP_620128.1:p.Gly243Ala
NM_001303249.3:c.679-194G>C	NP_001290178.1:n.679-194G>C
NM_001303250.3:c.455G>C	NP_001290179.1:p.Gly152Ala
NR_138151.2:n.967G>C