Canonical Allele Identifier: CA360696753

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097234G>C (hg19) ; chr5:g.110761534G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761534G>C , CM000667.2:g.110761534G>C	GRCh38
NC_000005.9:g.110097234G>C , CM000667.1:g.110097234G>C	GRCh37
NC_000005.8:g.110125133G>C	NCBI36
NG_051334.1:g.28399G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.1009G>C MANE Select	ENSP00000348211.3:p.Val337Leu
ENST00000355943.7:c.1009G>C	ENSP00000348211.3:p.Val337Leu
ENST00000447245.6:c.766G>C	ENSP00000399717.2:p.Val256Leu
ENST00000502462.6:n.1325G>C
ENST00000504098.1:c.571G>C	ENSP00000425708.1:p.Val191Leu
ENST00000509432.1:c.370G>C	ENSP00000426604.1:p.Val124Leu
ENST00000513706.2:n.2609G>C
ENST00000513807.5:c.523G>C	ENSP00000421134.1:p.Val175Leu
NM_001303249.1:c.766G>C	NP_001290178.1:p.Val256Leu
NM_001303250.1:c.736G>C	NP_001290179.1:p.Val246Leu
NM_138773.2:c.1009G>C	NP_620128.1:p.Val337Leu
NM_001303249.2:c.766G>C	NP_001290178.1:p.Val256Leu
NM_001303250.2:c.736G>C	NP_001290179.1:p.Val246Leu
NM_138773.3:c.1009G>C	NP_620128.1:p.Val337Leu
NR_138151.1:n.1283G>C
NM_138773.4:c.1009G>C MANE Select	NP_620128.1:p.Val337Leu
NM_001303249.3:c.766G>C	NP_001290178.1:p.Val256Leu
NM_001303250.3:c.736G>C	NP_001290179.1:p.Val246Leu
NR_138151.2:n.1248G>C