Canonical Allele Identifier: CA368263410

Gene: SLC25A13

Linked Data

• gnomAD v4: 7-96193106-G-T
• MyVariant Identifiers: chr7:g.95822418G>T (hg19) ; chr7:g.96193106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96193106G>T , CM000669.2:g.96193106G>T	GRCh38
NC_000007.13:g.95822418G>T , CM000669.1:g.95822418G>T	GRCh37
NC_000007.12:g.95660354G>T	NCBI36
NG_012247.1:g.134042C>A
NG_012247.2:g.134042C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.546C>A MANE Select	ENSP00000265631.6:p.Asp182Glu
ENST00000265631.9:c.546C>A	ENSP00000265631.5:p.Asp182Glu
ENST00000416240.6:c.546C>A	ENSP00000400101.2:p.Asp182Glu
NM_001160210.1:c.546C>A	NP_001153682.1:p.Asp182Glu
NM_014251.2:c.546C>A	NP_055066.1:p.Asp182Glu
NR_027662.1:n.621C>A
XM_006715831.2:c.579C>A	XP_006715894.1:p.Asp193Glu
XM_011515727.1:c.579C>A	XP_011514029.1:p.Asp193Glu
XM_006715831.4:c.579C>A	XP_006715894.1:p.Asp193Glu
XM_011515727.3:c.579C>A	XP_011514029.1:p.Asp193Glu
XM_017011663.1:c.537C>A	XP_016867152.1:p.Asp179Glu
XM_017011664.2:c.-213C>A	XP_016867153.1:n.-213C>A
XM_017011665.1:c.-213C>A	XP_016867154.1:n.-213C>A
XR_001744525.2:n.717C>A
XR_002956405.1:n.859C>A
NM_014251.3:c.546C>A MANE Select	NP_055066.1:p.Asp182Glu
NR_027662.2:n.572C>A
NM_001160210.2:c.546C>A	NP_001153682.1:p.Asp182Glu