Canonical Allele Identifier: CA360697730

Gene: SLC25A46

Linked Data

• dbSNP Id: rs1561610242
• gnomAD v4: 5-110761718-T-C
• MyVariant Identifiers: chr5:g.110097418T>C (hg19) ; chr5:g.110761718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761718T>C , CM000667.2:g.110761718T>C	GRCh38
NC_000005.9:g.110097418T>C , CM000667.1:g.110097418T>C	GRCh37
NC_000005.8:g.110125317T>C	NCBI36
NG_051334.1:g.28583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1193T>C MANE Select	ENSP00000348211.3:p.Leu398Pro
ENST00000355943.7:c.1193T>C	ENSP00000348211.3:p.Leu398Pro
ENST00000447245.6:c.950T>C	ENSP00000399717.2:p.Leu317Pro
ENST00000504098.1:c.755T>C	ENSP00000425708.1:p.Leu252Pro
ENST00000509432.1:c.554T>C	ENSP00000426604.1:p.Leu185Pro
ENST00000513706.2:n.2793T>C
ENST00000513807.5:c.707T>C	ENSP00000421134.1:p.Leu236Pro
NM_001303249.1:c.950T>C	NP_001290178.1:p.Leu317Pro
NM_001303250.1:c.920T>C	NP_001290179.1:p.Leu307Pro
NM_138773.2:c.1193T>C	NP_620128.1:p.Leu398Pro
NM_001303249.2:c.950T>C	NP_001290178.1:p.Leu317Pro
NM_001303250.2:c.920T>C	NP_001290179.1:p.Leu307Pro
NM_138773.3:c.1193T>C	NP_620128.1:p.Leu398Pro
NR_138151.1:n.1467T>C
NM_138773.4:c.1193T>C MANE Select	NP_620128.1:p.Leu398Pro
NM_001303249.3:c.950T>C	NP_001290178.1:p.Leu317Pro
NM_001303250.3:c.920T>C	NP_001290179.1:p.Leu307Pro
NR_138151.2:n.1432T>C