Canonical Allele Identifier: CA4352676

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361000
• ClinVar RCV Id: RCV000276344 ; RCV000333730
• dbSNP Id: rs574119069
• ExAC: 7:95749711 G / A
• gnomAD v2: 7-95749711-G-A
• gnomAD v3: 7-96120399-G-A
• gnomAD v4: 7-96120399-G-A
• MyVariant Identifiers: chr7:g.95749711G>A (hg19) ; chr7:g.96120399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96120399G>A , CM000669.2:g.96120399G>A	GRCh38
NC_000007.13:g.95749711G>A , CM000669.1:g.95749711G>A	GRCh37
NC_000007.12:g.95587647G>A	NCBI36
NG_012247.1:g.206749C>T
NG_012247.2:g.206749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.*792C>T MANE Select	ENSP00000265631.6:n.*792C>T
ENST00000265631.9:c.*792C>T	ENSP00000265631.5:n.*792C>T
ENST00000416240.6:c.*792C>T	ENSP00000400101.2:n.*792C>T
NM_001160210.1:c.*792C>T	NP_001153682.1:n.*792C>T
NM_014251.2:c.*792C>T	NP_055066.1:n.*792C>T
NR_027662.1:n.2895C>T
XM_006715831.2:c.*792C>T	XP_006715894.1:n.*792C>T
XM_011515728.1:c.*792C>T	XP_011514030.1:n.*792C>T
XM_006715831.4:c.*792C>T	XP_006715894.1:n.*792C>T
XM_017011663.1:c.*792C>T	XP_016867152.1:n.*792C>T
XM_017011664.2:c.*792C>T	XP_016867153.1:n.*792C>T
XM_017011665.1:c.*792C>T	XP_016867154.1:n.*792C>T
XR_001744525.2:n.3066C>T
XR_002956405.1:n.3624C>T
NM_014251.3:c.*792C>T MANE Select	NP_055066.1:n.*792C>T
NR_027662.2:n.2846C>T
NM_001160210.2:c.*792C>T	NP_001153682.1:n.*792C>T