Canonical Allele Identifier: CA4353117

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2180246
• ClinVar RCV Id: RCV002599547 ; RCV003161916
• dbSNP Id: rs774717064
• ExAC: 7:95818689 G / A
• gnomAD v2: 7-95818689-G-A
• gnomAD v3: 7-96189377-G-A
• gnomAD v4: 7-96189377-G-A
• MyVariant Identifiers: chr7:g.95818689G>A (hg19) ; chr7:g.96189377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189377G>A , CM000669.2:g.96189377G>A	GRCh38
NC_000007.13:g.95818689G>A , CM000669.1:g.95818689G>A	GRCh37
NC_000007.12:g.95656625G>A	NCBI36
NG_012247.1:g.137771C>T
NG_012247.2:g.137771C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.850C>T MANE Select	ENSP00000265631.6:p.Arg284Cys
ENST00000265631.9:c.850C>T	ENSP00000265631.5:p.Arg284Cys
ENST00000416240.6:c.850C>T	ENSP00000400101.2:p.Arg284Cys
ENST00000484495.5:n.3C>T
NM_001160210.1:c.850C>T	NP_001153682.1:p.Arg284Cys
NM_014251.2:c.850C>T	NP_055066.1:p.Arg284Cys
NR_027662.1:n.925C>T
XM_006715831.2:c.883C>T	XP_006715894.1:p.Arg295Cys
XM_011515727.1:c.883C>T	XP_011514029.1:p.Arg295Cys
XM_011515728.1:c.-3C>T	XP_011514030.1:n.-3C>T
XM_006715831.4:c.883C>T	XP_006715894.1:p.Arg295Cys
XM_011515727.3:c.883C>T	XP_011514029.1:p.Arg295Cys
XM_017011663.1:c.841C>T	XP_016867152.1:p.Arg281Cys
XM_017011664.2:c.-3C>T	XP_016867153.1:n.-3C>T
XM_017011665.1:c.-3C>T	XP_016867154.1:n.-3C>T
XR_001744525.2:n.1021C>T
XR_002956405.1:n.1163C>T
NM_014251.3:c.850C>T MANE Select	NP_055066.1:p.Arg284Cys
NR_027662.2:n.876C>T
NM_001160210.2:c.850C>T	NP_001153682.1:p.Arg284Cys