Canonical Allele Identifier: CA360696024

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761229-G-T
• MyVariant Identifiers: chr5:g.110096929G>T (hg19) ; chr5:g.110761229G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761229G>T , CM000667.2:g.110761229G>T	GRCh38
NC_000005.9:g.110096929G>T , CM000667.1:g.110096929G>T	GRCh37
NC_000005.8:g.110124828G>T	NCBI36
NG_051334.1:g.28094G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.704G>T MANE Select	ENSP00000348211.3:p.Gly235Val
ENST00000355943.7:c.704G>T	ENSP00000348211.3:p.Gly235Val
ENST00000447245.6:c.679-218G>T	ENSP00000399717.2:n.679-218G>T
ENST00000502462.6:n.1020G>T
ENST00000504098.1:c.266G>T	ENSP00000425708.1:p.Gly89Val
ENST00000509432.1:c.65G>T	ENSP00000426604.1:p.Gly22Val
ENST00000513706.2:n.2304G>T
ENST00000513807.5:c.218G>T	ENSP00000421134.1:p.Gly73Val
NM_001303249.1:c.679-218G>T	NP_001290178.1:n.679-218G>T
NM_001303250.1:c.431G>T	NP_001290179.1:p.Gly144Val
NM_138773.2:c.704G>T	NP_620128.1:p.Gly235Val
NM_001303249.2:c.679-218G>T	NP_001290178.1:n.679-218G>T
NM_001303250.2:c.431G>T	NP_001290179.1:p.Gly144Val
NM_138773.3:c.704G>T	NP_620128.1:p.Gly235Val
NR_138151.1:n.978G>T
NM_138773.4:c.704G>T MANE Select	NP_620128.1:p.Gly235Val
NM_001303249.3:c.679-218G>T	NP_001290178.1:n.679-218G>T
NM_001303250.3:c.431G>T	NP_001290179.1:p.Gly144Val
NR_138151.2:n.943G>T