Canonical Allele Identifier: CA3364826

Gene: SLC25A46

Linked Data

• dbSNP Id: rs144301157
• ExAC: 5:110097435 C / T
• gnomAD v2: 5-110097435-C-T
• gnomAD v3: 5-110761735-C-T
• gnomAD v4: 5-110761735-C-T
• MyVariant Identifiers: chr5:g.110097435C>T (hg19) ; chr5:g.110761735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761735C>T , CM000667.2:g.110761735C>T	GRCh38
NC_000005.9:g.110097435C>T , CM000667.1:g.110097435C>T	GRCh37
NC_000005.8:g.110125334C>T	NCBI36
NG_051334.1:g.28600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1210C>T MANE Select	ENSP00000348211.3:p.Gln404Ter
ENST00000355943.7:c.1210C>T	ENSP00000348211.3:p.Gln404Ter
ENST00000447245.6:c.967C>T	ENSP00000399717.2:p.Gln323Ter
ENST00000504098.1:c.772C>T	ENSP00000425708.1:p.Gln258Ter
ENST00000509432.1:c.571C>T	ENSP00000426604.1:p.Gln191Ter
ENST00000513706.2:n.2810C>T
ENST00000513807.5:c.724C>T	ENSP00000421134.1:p.Gln242Ter
NM_001303249.1:c.967C>T	NP_001290178.1:p.Gln323Ter
NM_001303250.1:c.937C>T	NP_001290179.1:p.Gln313Ter
NM_138773.2:c.1210C>T	NP_620128.1:p.Gln404Ter
NM_001303249.2:c.967C>T	NP_001290178.1:p.Gln323Ter
NM_001303250.2:c.937C>T	NP_001290179.1:p.Gln313Ter
NM_138773.3:c.1210C>T	NP_620128.1:p.Gln404Ter
NR_138151.1:n.1484C>T
NM_138773.4:c.1210C>T MANE Select	NP_620128.1:p.Gln404Ter
NM_001303249.3:c.967C>T	NP_001290178.1:p.Gln323Ter
NM_001303250.3:c.937C>T	NP_001290179.1:p.Gln313Ter
NR_138151.2:n.1449C>T