Canonical Allele Identifier: CA2601936315

Gene: SLC25A13

Linked Data

• dbSNP Id: rs2116383531
• gnomAD v3: 7-96121797-C-T
• gnomAD v4: 7-96121797-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121797C>T , CM000669.2:g.96121797C>T	GRCh38
NC_000007.13:g.95751109C>T , CM000669.1:g.95751109C>T	GRCh37
NC_000007.12:g.95589045C>T	NCBI36
NG_012247.1:g.205351G>A
NG_012247.2:g.205351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1750+42G>A MANE Select	ENSP00000265631.6:n.1750+42G>A
ENST00000265631.9:c.1750+42G>A	ENSP00000265631.5:n.1750+42G>A
ENST00000416240.6:c.1753+42G>A	ENSP00000400101.2:n.1753+42G>A
ENST00000494085.1:n.202G>A
NM_001160210.1:c.1753+42G>A	NP_001153682.1:n.1753+42G>A
NM_014251.2:c.1750+42G>A	NP_055066.1:n.1750+42G>A
NR_027662.1:n.1825+42G>A
XM_006715831.2:c.1783+42G>A	XP_006715894.1:n.1783+42G>A
XM_011515728.1:c.898+42G>A	XP_011514030.1:n.898+42G>A
XM_006715831.4:c.1783+42G>A	XP_006715894.1:n.1783+42G>A
XM_017011663.1:c.1741+42G>A	XP_016867152.1:n.1741+42G>A
XM_017011664.2:c.898+42G>A	XP_016867153.1:n.898+42G>A
XM_017011665.1:c.898+42G>A	XP_016867154.1:n.898+42G>A
XR_001744525.2:n.1996+42G>A
XR_002956405.1:n.2554+42G>A
NM_014251.3:c.1750+42G>A MANE Select	NP_055066.1:n.1750+42G>A
NR_027662.2:n.1776+42G>A
NM_001160210.2:c.1753+42G>A	NP_001153682.1:n.1753+42G>A