Canonical Allele Identifier: CA3364774

Gene: SLC25A46

Linked Data

• dbSNP Id: rs779270642
• ExAC: 5:110097150 A / G
• gnomAD v4: 5-110761450-A-G
• COSMIC: COSM4898803
• MyVariant Identifiers: chr5:g.110097150A>G (hg19) ; chr5:g.110761450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761450A>G , CM000667.2:g.110761450A>G	GRCh38
NC_000005.9:g.110097150A>G , CM000667.1:g.110097150A>G	GRCh37
NC_000005.8:g.110125049A>G	NCBI36
NG_051334.1:g.28315A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.925A>G MANE Select	ENSP00000348211.3:p.Met309Val
ENST00000355943.7:c.925A>G	ENSP00000348211.3:p.Met309Val
ENST00000447245.6:c.682A>G	ENSP00000399717.2:p.Met228Val
ENST00000502462.6:n.1241A>G
ENST00000504098.1:c.487A>G	ENSP00000425708.1:p.Met163Val
ENST00000509432.1:c.286A>G	ENSP00000426604.1:p.Met96Val
ENST00000513706.2:n.2525A>G
ENST00000513807.5:c.439A>G	ENSP00000421134.1:p.Met147Val
NM_001303249.1:c.682A>G	NP_001290178.1:p.Met228Val
NM_001303250.1:c.652A>G	NP_001290179.1:p.Met218Val
NM_138773.2:c.925A>G	NP_620128.1:p.Met309Val
NM_001303249.2:c.682A>G	NP_001290178.1:p.Met228Val
NM_001303250.2:c.652A>G	NP_001290179.1:p.Met218Val
NM_138773.3:c.925A>G	NP_620128.1:p.Met309Val
NR_138151.1:n.1199A>G
NM_138773.4:c.925A>G MANE Select	NP_620128.1:p.Met309Val
NM_001303249.3:c.682A>G	NP_001290178.1:p.Met228Val
NM_001303250.3:c.652A>G	NP_001290179.1:p.Met218Val
NR_138151.2:n.1164A>G