Canonical Allele Identifier: CA360697823

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097437G>T (hg19) ; chr5:g.110761737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761737G>T , CM000667.2:g.110761737G>T	GRCh38
NC_000005.9:g.110097437G>T , CM000667.1:g.110097437G>T	GRCh37
NC_000005.8:g.110125336G>T	NCBI36
NG_051334.1:g.28602G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1212G>T MANE Select	ENSP00000348211.3:p.Gln404His
ENST00000355943.7:c.1212G>T	ENSP00000348211.3:p.Gln404His
ENST00000447245.6:c.969G>T	ENSP00000399717.2:p.Gln323His
ENST00000504098.1:c.774G>T	ENSP00000425708.1:p.Gln258His
ENST00000509432.1:c.573G>T	ENSP00000426604.1:p.Gln191His
ENST00000513706.2:n.2812G>T
ENST00000513807.5:c.726G>T	ENSP00000421134.1:p.Gln242His
NM_001303249.1:c.969G>T	NP_001290178.1:p.Gln323His
NM_001303250.1:c.939G>T	NP_001290179.1:p.Gln313His
NM_138773.2:c.1212G>T	NP_620128.1:p.Gln404His
NM_001303249.2:c.969G>T	NP_001290178.1:p.Gln323His
NM_001303250.2:c.939G>T	NP_001290179.1:p.Gln313His
NM_138773.3:c.1212G>T	NP_620128.1:p.Gln404His
NR_138151.1:n.1486G>T
NM_138773.4:c.1212G>T MANE Select	NP_620128.1:p.Gln404His
NM_001303249.3:c.969G>T	NP_001290178.1:p.Gln323His
NM_001303250.3:c.939G>T	NP_001290179.1:p.Gln313His
NR_138151.2:n.1451G>T