Canonical Allele Identifier: CA342148

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 21508
• ClinVar RCV Id: RCV001058684 ; RCV001262833 ; RCV001272101 ; RCV002259307
• dbSNP Id: rs80338721
• ExAC: 7:95813688 G / A
• gnomAD v2: 7-95813688-G-A
• gnomAD v3: 7-96184376-G-A
• gnomAD v4: 7-96184376-G-A
• MyVariant Identifiers: chr7:g.95813688G>A (hg19) ; chr7:g.96184376G>A (hg38)
• PubMed: PMID:18392553 ; PMID:20301360

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184376G>A , CM000669.2:g.96184376G>A	GRCh38
NC_000007.13:g.95813688G>A , CM000669.1:g.95813688G>A	GRCh37
NC_000007.12:g.95651624G>A	NCBI36
NG_012247.1:g.142772C>T
NG_012247.2:g.142772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1078C>T MANE Select	ENSP00000265631.6:p.Arg360Ter
ENST00000265631.9:c.1078C>T	ENSP00000265631.5:p.Arg360Ter
ENST00000416240.6:c.1081C>T	ENSP00000400101.2:p.Arg361Ter
ENST00000484495.5:n.231C>T
ENST00000490072.5:n.145C>T
ENST00000492869.1:n.199C>T
NM_001160210.1:c.1081C>T	NP_001153682.1:p.Arg361Ter
NM_014251.2:c.1078C>T	NP_055066.1:p.Arg360Ter
NR_027662.1:n.1153C>T
XM_006715831.2:c.1111C>T	XP_006715894.1:p.Arg371Ter
XM_011515727.1:c.1111C>T	XP_011514029.1:p.Arg371Ter
XM_011515728.1:c.226C>T	XP_011514030.1:p.Arg76Ter
XM_006715831.4:c.1111C>T	XP_006715894.1:p.Arg371Ter
XM_011515727.3:c.1111C>T	XP_011514029.1:p.Arg371Ter
XM_017011663.1:c.1069C>T	XP_016867152.1:p.Arg357Ter
XM_017011664.2:c.226C>T	XP_016867153.1:p.Arg76Ter
XM_017011665.1:c.226C>T	XP_016867154.1:p.Arg76Ter
XR_001744525.2:n.1249C>T
XR_002956405.1:n.1882C>T
NM_014251.3:c.1078C>T MANE Select	NP_055066.1:p.Arg360Ter
NR_027662.2:n.1104C>T
NM_001160210.2:c.1081C>T	NP_001153682.1:p.Arg361Ter