Canonical Allele Identifier: CA368262071

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 597299
• ClinVar RCV Id: RCV000733364 ; RCV001868986
• dbSNP Id: rs1365501165
• gnomAD v2: 7-95818623-C-T
• gnomAD v3: 7-96189311-C-T
• gnomAD v4: 7-96189311-C-T
• MyVariant Identifiers: chr7:g.95818623C>T (hg19) ; chr7:g.96189311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189311C>T , CM000669.2:g.96189311C>T	GRCh38
NC_000007.13:g.95818623C>T , CM000669.1:g.95818623C>T	GRCh37
NC_000007.12:g.95656559C>T	NCBI36
NG_012247.1:g.137837G>A
NG_012247.2:g.137837G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.916G>A MANE Select	ENSP00000265631.6:p.Ala306Thr
ENST00000265631.9:c.916G>A	ENSP00000265631.5:p.Ala306Thr
ENST00000416240.6:c.916G>A	ENSP00000400101.2:p.Ala306Thr
ENST00000484495.5:n.69G>A
NM_001160210.1:c.916G>A	NP_001153682.1:p.Ala306Thr
NM_014251.2:c.916G>A	NP_055066.1:p.Ala306Thr
NR_027662.1:n.991G>A
XM_006715831.2:c.949G>A	XP_006715894.1:p.Ala317Thr
XM_011515727.1:c.949G>A	XP_011514029.1:p.Ala317Thr
XM_011515728.1:c.64G>A	XP_011514030.1:p.Ala22Thr
XM_006715831.4:c.949G>A	XP_006715894.1:p.Ala317Thr
XM_011515727.3:c.949G>A	XP_011514029.1:p.Ala317Thr
XM_017011663.1:c.907G>A	XP_016867152.1:p.Ala303Thr
XM_017011664.2:c.64G>A	XP_016867153.1:p.Ala22Thr
XM_017011665.1:c.64G>A	XP_016867154.1:p.Ala22Thr
XR_001744525.2:n.1087G>A
XR_002956405.1:n.1229G>A
NM_014251.3:c.916G>A MANE Select	NP_055066.1:p.Ala306Thr
NR_027662.2:n.942G>A
NM_001160210.2:c.916G>A	NP_001153682.1:p.Ala306Thr