Canonical Allele Identifier: CA360696490

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097150A>C (hg19) ; chr5:g.110761450A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761450A>C , CM000667.2:g.110761450A>C	GRCh38
NC_000005.9:g.110097150A>C , CM000667.1:g.110097150A>C	GRCh37
NC_000005.8:g.110125049A>C	NCBI36
NG_051334.1:g.28315A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.925A>C MANE Select	ENSP00000348211.3:p.Met309Leu
ENST00000355943.7:c.925A>C	ENSP00000348211.3:p.Met309Leu
ENST00000447245.6:c.682A>C	ENSP00000399717.2:p.Met228Leu
ENST00000502462.6:n.1241A>C
ENST00000504098.1:c.487A>C	ENSP00000425708.1:p.Met163Leu
ENST00000509432.1:c.286A>C	ENSP00000426604.1:p.Met96Leu
ENST00000513706.2:n.2525A>C
ENST00000513807.5:c.439A>C	ENSP00000421134.1:p.Met147Leu
NM_001303249.1:c.682A>C	NP_001290178.1:p.Met228Leu
NM_001303250.1:c.652A>C	NP_001290179.1:p.Met218Leu
NM_138773.2:c.925A>C	NP_620128.1:p.Met309Leu
NM_001303249.2:c.682A>C	NP_001290178.1:p.Met228Leu
NM_001303250.2:c.652A>C	NP_001290179.1:p.Met218Leu
NM_138773.3:c.925A>C	NP_620128.1:p.Met309Leu
NR_138151.1:n.1199A>C
NM_138773.4:c.925A>C MANE Select	NP_620128.1:p.Met309Leu
NM_001303249.3:c.682A>C	NP_001290178.1:p.Met228Leu
NM_001303250.3:c.652A>C	NP_001290179.1:p.Met218Leu
NR_138151.2:n.1164A>C