Canonical Allele Identifier: CA368262179

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1794754017
• gnomAD v4: 7-96189332-C-T
• MyVariant Identifiers: chr7:g.95818644C>T (hg19) ; chr7:g.96189332C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189332C>T , CM000669.2:g.96189332C>T	GRCh38
NC_000007.13:g.95818644C>T , CM000669.1:g.95818644C>T	GRCh37
NC_000007.12:g.95656580C>T	NCBI36
NG_012247.1:g.137816G>A
NG_012247.2:g.137816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.895G>A MANE Select	ENSP00000265631.6:p.Gly299Arg
ENST00000265631.9:c.895G>A	ENSP00000265631.5:p.Gly299Arg
ENST00000416240.6:c.895G>A	ENSP00000400101.2:p.Gly299Arg
ENST00000484495.5:n.48G>A
NM_001160210.1:c.895G>A	NP_001153682.1:p.Gly299Arg
NM_014251.2:c.895G>A	NP_055066.1:p.Gly299Arg
NR_027662.1:n.970G>A
XM_006715831.2:c.928G>A	XP_006715894.1:p.Gly310Arg
XM_011515727.1:c.928G>A	XP_011514029.1:p.Gly310Arg
XM_011515728.1:c.43G>A	XP_011514030.1:p.Gly15Arg
XM_006715831.4:c.928G>A	XP_006715894.1:p.Gly310Arg
XM_011515727.3:c.928G>A	XP_011514029.1:p.Gly310Arg
XM_017011663.1:c.886G>A	XP_016867152.1:p.Gly296Arg
XM_017011664.2:c.43G>A	XP_016867153.1:p.Gly15Arg
XM_017011665.1:c.43G>A	XP_016867154.1:p.Gly15Arg
XR_001744525.2:n.1066G>A
XR_002956405.1:n.1208G>A
NM_014251.3:c.895G>A MANE Select	NP_055066.1:p.Gly299Arg
NR_027662.2:n.921G>A
NM_001160210.2:c.895G>A	NP_001153682.1:p.Gly299Arg