Canonical Allele Identifier: CA368260052

Gene: SLC25A13

Linked Data

• MyVariant Identifiers: chr7:g.95813591C>T (hg19) ; chr7:g.96184279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184279C>T , CM000669.2:g.96184279C>T	GRCh38
NC_000007.13:g.95813591C>T , CM000669.1:g.95813591C>T	GRCh37
NC_000007.12:g.95651527C>T	NCBI36
NG_012247.1:g.142869G>A
NG_012247.2:g.142869G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1175G>A MANE Select	ENSP00000265631.6:p.Arg392Lys
ENST00000265631.9:c.1175G>A	ENSP00000265631.5:p.Arg392Lys
ENST00000416240.6:c.1178G>A	ENSP00000400101.2:p.Arg393Lys
ENST00000484495.5:n.328G>A
ENST00000490072.5:n.242G>A
ENST00000492869.1:n.296G>A
NM_001160210.1:c.1178G>A	NP_001153682.1:p.Arg393Lys
NM_014251.2:c.1175G>A	NP_055066.1:p.Arg392Lys
NR_027662.1:n.1250G>A
XM_006715831.2:c.1208G>A	XP_006715894.1:p.Arg403Lys
XM_011515727.1:c.1208G>A	XP_011514029.1:p.Arg403Lys
XM_011515728.1:c.323G>A	XP_011514030.1:p.Arg108Lys
XM_006715831.4:c.1208G>A	XP_006715894.1:p.Arg403Lys
XM_011515727.3:c.1208G>A	XP_011514029.1:p.Arg403Lys
XM_017011663.1:c.1166G>A	XP_016867152.1:p.Arg389Lys
XM_017011664.2:c.323G>A	XP_016867153.1:p.Arg108Lys
XM_017011665.1:c.323G>A	XP_016867154.1:p.Arg108Lys
XR_001744525.2:n.1346G>A
XR_002956405.1:n.1979G>A
NM_014251.3:c.1175G>A MANE Select	NP_055066.1:p.Arg392Lys
NR_027662.2:n.1201G>A
NM_001160210.2:c.1178G>A	NP_001153682.1:p.Arg393Lys