Canonical Allele Identifier: CA2499219081

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1085843
• ClinVar RCV Id: RCV001403412
• dbSNP Id: rs2116383375
• gnomAD v4: 7-96121767-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121767A>G , CM000669.2:g.96121767A>G	GRCh38
NC_000007.13:g.95751079A>G , CM000669.1:g.95751079A>G	GRCh37
NC_000007.12:g.95589015A>G	NCBI36
NG_012247.1:g.205381T>C
NG_012247.2:g.205381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1751-22T>C MANE Select	ENSP00000265631.6:n.1751-22T>C
ENST00000265631.9:c.1751-22T>C	ENSP00000265631.5:n.1751-22T>C
ENST00000416240.6:c.1754-22T>C	ENSP00000400101.2:n.1754-22T>C
ENST00000494085.1:n.232T>C
NM_001160210.1:c.1754-22T>C	NP_001153682.1:n.1754-22T>C
NM_014251.2:c.1751-22T>C	NP_055066.1:n.1751-22T>C
NR_027662.1:n.1826-22T>C
XM_006715831.2:c.1784-22T>C	XP_006715894.1:n.1784-22T>C
XM_011515728.1:c.899-22T>C	XP_011514030.1:n.899-22T>C
XM_006715831.4:c.1784-22T>C	XP_006715894.1:n.1784-22T>C
XM_017011663.1:c.1742-22T>C	XP_016867152.1:n.1742-22T>C
XM_017011664.2:c.899-22T>C	XP_016867153.1:n.899-22T>C
XM_017011665.1:c.899-22T>C	XP_016867154.1:n.899-22T>C
XR_001744525.2:n.1997-22T>C
XR_002956405.1:n.2555-22T>C
NM_014251.3:c.1751-22T>C MANE Select	NP_055066.1:n.1751-22T>C
NR_027662.2:n.1777-22T>C
NM_001160210.2:c.1754-22T>C	NP_001153682.1:n.1754-22T>C