Canonical Allele Identifier: CA2683824626

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2858331
• ClinVar RCV Id: RCV003742267
• gnomAD v4: 7-96121643-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121643C>G , CM000669.2:g.96121643C>G	GRCh38
NC_000007.13:g.95750955C>G , CM000669.1:g.95750955C>G	GRCh37
NC_000007.12:g.95588891C>G	NCBI36
NG_012247.1:g.205505G>C
NG_012247.2:g.205505G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1841+12G>C MANE Select	ENSP00000265631.6:n.1841+12G>C
ENST00000265631.9:c.1841+12G>C	ENSP00000265631.5:n.1841+12G>C
ENST00000416240.6:c.1844+12G>C	ENSP00000400101.2:n.1844+12G>C
ENST00000494085.1:n.344+12G>C
NM_001160210.1:c.1844+12G>C	NP_001153682.1:n.1844+12G>C
NM_014251.2:c.1841+12G>C	NP_055066.1:n.1841+12G>C
NR_027662.1:n.1916+12G>C
XM_006715831.2:c.1874+12G>C	XP_006715894.1:n.1874+12G>C
XM_011515728.1:c.989+12G>C	XP_011514030.1:n.989+12G>C
XM_006715831.4:c.1874+12G>C	XP_006715894.1:n.1874+12G>C
XM_017011663.1:c.1832+12G>C	XP_016867152.1:n.1832+12G>C
XM_017011664.2:c.989+12G>C	XP_016867153.1:n.989+12G>C
XM_017011665.1:c.989+12G>C	XP_016867154.1:n.989+12G>C
XR_001744525.2:n.2087+12G>C
XR_002956405.1:n.2645+12G>C
NM_014251.3:c.1841+12G>C MANE Select	NP_055066.1:n.1841+12G>C
NR_027662.2:n.1867+12G>C
NM_001160210.2:c.1844+12G>C	NP_001153682.1:n.1844+12G>C