Canonical Allele Identifier: CA360697791

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097429G>C (hg19) ; chr5:g.110761729G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761729G>C , CM000667.2:g.110761729G>C	GRCh38
NC_000005.9:g.110097429G>C , CM000667.1:g.110097429G>C	GRCh37
NC_000005.8:g.110125328G>C	NCBI36
NG_051334.1:g.28594G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1204G>C MANE Select	ENSP00000348211.3:p.Val402Leu
ENST00000355943.7:c.1204G>C	ENSP00000348211.3:p.Val402Leu
ENST00000447245.6:c.961G>C	ENSP00000399717.2:p.Val321Leu
ENST00000504098.1:c.766G>C	ENSP00000425708.1:p.Val256Leu
ENST00000509432.1:c.565G>C	ENSP00000426604.1:p.Val189Leu
ENST00000513706.2:n.2804G>C
ENST00000513807.5:c.718G>C	ENSP00000421134.1:p.Val240Leu
NM_001303249.1:c.961G>C	NP_001290178.1:p.Val321Leu
NM_001303250.1:c.931G>C	NP_001290179.1:p.Val311Leu
NM_138773.2:c.1204G>C	NP_620128.1:p.Val402Leu
NM_001303249.2:c.961G>C	NP_001290178.1:p.Val321Leu
NM_001303250.2:c.931G>C	NP_001290179.1:p.Val311Leu
NM_138773.3:c.1204G>C	NP_620128.1:p.Val402Leu
NR_138151.1:n.1478G>C
NM_138773.4:c.1204G>C MANE Select	NP_620128.1:p.Val402Leu
NM_001303249.3:c.961G>C	NP_001290178.1:p.Val321Leu
NM_001303250.3:c.931G>C	NP_001290179.1:p.Val311Leu
NR_138151.2:n.1443G>C