Canonical Allele Identifier: CA368260063

Gene: SLC25A13

Linked Data

• MyVariant Identifiers: chr7:g.95813598G>C (hg19) ; chr7:g.96184286G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184286G>C , CM000669.2:g.96184286G>C	GRCh38
NC_000007.13:g.95813598G>C , CM000669.1:g.95813598G>C	GRCh37
NC_000007.12:g.95651534G>C	NCBI36
NG_012247.1:g.142862C>G
NG_012247.2:g.142862C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1168C>G MANE Select	ENSP00000265631.6:p.Leu390Val
ENST00000265631.9:c.1168C>G	ENSP00000265631.5:p.Leu390Val
ENST00000416240.6:c.1171C>G	ENSP00000400101.2:p.Leu391Val
ENST00000484495.5:n.321C>G
ENST00000490072.5:n.235C>G
ENST00000492869.1:n.289C>G
NM_001160210.1:c.1171C>G	NP_001153682.1:p.Leu391Val
NM_014251.2:c.1168C>G	NP_055066.1:p.Leu390Val
NR_027662.1:n.1243C>G
XM_006715831.2:c.1201C>G	XP_006715894.1:p.Leu401Val
XM_011515727.1:c.1201C>G	XP_011514029.1:p.Leu401Val
XM_011515728.1:c.316C>G	XP_011514030.1:p.Leu106Val
XM_006715831.4:c.1201C>G	XP_006715894.1:p.Leu401Val
XM_011515727.3:c.1201C>G	XP_011514029.1:p.Leu401Val
XM_017011663.1:c.1159C>G	XP_016867152.1:p.Leu387Val
XM_017011664.2:c.316C>G	XP_016867153.1:p.Leu106Val
XM_017011665.1:c.316C>G	XP_016867154.1:p.Leu106Val
XR_001744525.2:n.1339C>G
XR_002956405.1:n.1972C>G
NM_014251.3:c.1168C>G MANE Select	NP_055066.1:p.Leu390Val
NR_027662.2:n.1194C>G
NM_001160210.2:c.1171C>G	NP_001153682.1:p.Leu391Val