Canonical Allele Identifier: CA4353113

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 594933
• ClinVar RCV Id: RCV000730338 ; RCV001244437 ; RCV001830607
• dbSNP Id: rs142308242
• ExAC: 7:95818665 G / A
• gnomAD v2: 7-95818665-G-A
• gnomAD v3: 7-96189353-G-A
• gnomAD v4: 7-96189353-G-A
• MyVariant Identifiers: chr7:g.95818665G>A (hg19) ; chr7:g.96189353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189353G>A , CM000669.2:g.96189353G>A	GRCh38
NC_000007.13:g.95818665G>A , CM000669.1:g.95818665G>A	GRCh37
NC_000007.12:g.95656601G>A	NCBI36
NG_012247.1:g.137795C>T
NG_012247.2:g.137795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.874C>T MANE Select	ENSP00000265631.6:p.Arg292Trp
ENST00000265631.9:c.874C>T	ENSP00000265631.5:p.Arg292Trp
ENST00000416240.6:c.874C>T	ENSP00000400101.2:p.Arg292Trp
ENST00000484495.5:n.27C>T
NM_001160210.1:c.874C>T	NP_001153682.1:p.Arg292Trp
NM_014251.2:c.874C>T	NP_055066.1:p.Arg292Trp
NR_027662.1:n.949C>T
XM_006715831.2:c.907C>T	XP_006715894.1:p.Arg303Trp
XM_011515727.1:c.907C>T	XP_011514029.1:p.Arg303Trp
XM_011515728.1:c.22C>T	XP_011514030.1:p.Arg8Trp
XM_006715831.4:c.907C>T	XP_006715894.1:p.Arg303Trp
XM_011515727.3:c.907C>T	XP_011514029.1:p.Arg303Trp
XM_017011663.1:c.865C>T	XP_016867152.1:p.Arg289Trp
XM_017011664.2:c.22C>T	XP_016867153.1:p.Arg8Trp
XM_017011665.1:c.22C>T	XP_016867154.1:p.Arg8Trp
XR_001744525.2:n.1045C>T
XR_002956405.1:n.1187C>T
NM_014251.3:c.874C>T MANE Select	NP_055066.1:p.Arg292Trp
NR_027662.2:n.900C>T
NM_001160210.2:c.874C>T	NP_001153682.1:p.Arg292Trp