Canonical Allele Identifier: CA368257141

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1232814327
• gnomAD v2: 7-95750565-G-T
• gnomAD v4: 7-96121253-G-T
• MyVariant Identifiers: chr7:g.95750565G>T (hg19) ; chr7:g.96121253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121253G>T , CM000669.2:g.96121253G>T	GRCh38
NC_000007.13:g.95750565G>T , CM000669.1:g.95750565G>T	GRCh37
NC_000007.12:g.95588501G>T	NCBI36
NG_012247.1:g.205895C>A
NG_012247.2:g.205895C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1966C>A MANE Select	ENSP00000265631.6:p.Leu656Ile
ENST00000265631.9:c.1966C>A	ENSP00000265631.5:p.Leu656Ile
ENST00000416240.6:c.1969C>A	ENSP00000400101.2:p.Leu657Ile
ENST00000494085.1:n.469C>A
NM_001160210.1:c.1969C>A	NP_001153682.1:p.Leu657Ile
NM_014251.2:c.1966C>A	NP_055066.1:p.Leu656Ile
NR_027662.1:n.2041C>A
XM_006715831.2:c.1999C>A	XP_006715894.1:p.Leu667Ile
XM_011515728.1:c.1114C>A	XP_011514030.1:p.Leu372Ile
XM_006715831.4:c.1999C>A	XP_006715894.1:p.Leu667Ile
XM_017011663.1:c.1957C>A	XP_016867152.1:p.Leu653Ile
XM_017011664.2:c.1114C>A	XP_016867153.1:p.Leu372Ile
XM_017011665.1:c.1114C>A	XP_016867154.1:p.Leu372Ile
XR_001744525.2:n.2212C>A
XR_002956405.1:n.2770C>A
NM_014251.3:c.1966C>A MANE Select	NP_055066.1:p.Leu656Ile
NR_027662.2:n.1992C>A
NM_001160210.2:c.1969C>A	NP_001153682.1:p.Leu657Ile