Canonical Allele Identifier: CA360697472

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097358A>C (hg19) ; chr5:g.110761658A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761658A>C , CM000667.2:g.110761658A>C	GRCh38
NC_000005.9:g.110097358A>C , CM000667.1:g.110097358A>C	GRCh37
NC_000005.8:g.110125257A>C	NCBI36
NG_051334.1:g.28523A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1133A>C MANE Select	ENSP00000348211.3:p.Gln378Pro
ENST00000355943.7:c.1133A>C	ENSP00000348211.3:p.Gln378Pro
ENST00000447245.6:c.890A>C	ENSP00000399717.2:p.Gln297Pro
ENST00000504098.1:c.695A>C	ENSP00000425708.1:p.Gln232Pro
ENST00000509432.1:c.494A>C	ENSP00000426604.1:p.Gln165Pro
ENST00000513706.2:n.2733A>C
ENST00000513807.5:c.647A>C	ENSP00000421134.1:p.Gln216Pro
NM_001303249.1:c.890A>C	NP_001290178.1:p.Gln297Pro
NM_001303250.1:c.860A>C	NP_001290179.1:p.Gln287Pro
NM_138773.2:c.1133A>C	NP_620128.1:p.Gln378Pro
NM_001303249.2:c.890A>C	NP_001290178.1:p.Gln297Pro
NM_001303250.2:c.860A>C	NP_001290179.1:p.Gln287Pro
NM_138773.3:c.1133A>C	NP_620128.1:p.Gln378Pro
NR_138151.1:n.1407A>C
NM_138773.4:c.1133A>C MANE Select	NP_620128.1:p.Gln378Pro
NM_001303249.3:c.890A>C	NP_001290178.1:p.Gln297Pro
NM_001303250.3:c.860A>C	NP_001290179.1:p.Gln287Pro
NR_138151.2:n.1372A>C