Canonical Allele Identifier: CA1727517723

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2961683
• ClinVar RCV Id: RCV003822329
• dbSNP Id: rs1791510876
• gnomAD v4: 7-96121642-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121642G>T , CM000669.2:g.96121642G>T	GRCh38
NC_000007.13:g.95750954G>T , CM000669.1:g.95750954G>T	GRCh37
NC_000007.12:g.95588890G>T	NCBI36
NG_012247.1:g.205506C>A
NG_012247.2:g.205506C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1841+13C>A MANE Select	ENSP00000265631.6:n.1841+13C>A
ENST00000265631.9:c.1841+13C>A	ENSP00000265631.5:n.1841+13C>A
ENST00000416240.6:c.1844+13C>A	ENSP00000400101.2:n.1844+13C>A
ENST00000494085.1:n.344+13C>A
NM_001160210.1:c.1844+13C>A	NP_001153682.1:n.1844+13C>A
NM_014251.2:c.1841+13C>A	NP_055066.1:n.1841+13C>A
NR_027662.1:n.1916+13C>A
XM_006715831.2:c.1874+13C>A	XP_006715894.1:n.1874+13C>A
XM_011515728.1:c.989+13C>A	XP_011514030.1:n.989+13C>A
XM_006715831.4:c.1874+13C>A	XP_006715894.1:n.1874+13C>A
XM_017011663.1:c.1832+13C>A	XP_016867152.1:n.1832+13C>A
XM_017011664.2:c.989+13C>A	XP_016867153.1:n.989+13C>A
XM_017011665.1:c.989+13C>A	XP_016867154.1:n.989+13C>A
XR_001744525.2:n.2087+13C>A
XR_002956405.1:n.2645+13C>A
NM_014251.3:c.1841+13C>A MANE Select	NP_055066.1:n.1841+13C>A
NR_027662.2:n.1867+13C>A
NM_001160210.2:c.1844+13C>A	NP_001153682.1:n.1844+13C>A