Canonical Allele Identifier: CA368256997

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1791485912
• gnomAD v4: 7-96121214-T-C
• MyVariant Identifiers: chr7:g.95750526T>C (hg19) ; chr7:g.96121214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121214T>C , CM000669.2:g.96121214T>C	GRCh38
NC_000007.13:g.95750526T>C , CM000669.1:g.95750526T>C	GRCh37
NC_000007.12:g.95588462T>C	NCBI36
NG_012247.1:g.205934A>G
NG_012247.2:g.205934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.2005A>G MANE Select	ENSP00000265631.6:p.Lys669Glu
ENST00000265631.9:c.2005A>G	ENSP00000265631.5:p.Lys669Glu
ENST00000416240.6:c.2008A>G	ENSP00000400101.2:p.Lys670Glu
ENST00000494085.1:n.508A>G
NM_001160210.1:c.2008A>G	NP_001153682.1:p.Lys670Glu
NM_014251.2:c.2005A>G	NP_055066.1:p.Lys669Glu
NR_027662.1:n.2080A>G
XM_006715831.2:c.2038A>G	XP_006715894.1:p.Lys680Glu
XM_011515728.1:c.1153A>G	XP_011514030.1:p.Lys385Glu
XM_006715831.4:c.2038A>G	XP_006715894.1:p.Lys680Glu
XM_017011663.1:c.1996A>G	XP_016867152.1:p.Lys666Glu
XM_017011664.2:c.1153A>G	XP_016867153.1:p.Lys385Glu
XM_017011665.1:c.1153A>G	XP_016867154.1:p.Lys385Glu
XR_001744525.2:n.2251A>G
XR_002956405.1:n.2809A>G
NM_014251.3:c.2005A>G MANE Select	NP_055066.1:p.Lys669Glu
NR_027662.2:n.2031A>G
NM_001160210.2:c.2008A>G	NP_001153682.1:p.Lys670Glu