Canonical Allele Identifier: CA10629699

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361024
• ClinVar RCV Id: RCV000361887 ; RCV000394124 ; RCV002519512
• dbSNP Id: rs886062529
• gnomAD v2: 7-95820464-A-G
• gnomAD v4: 7-96191152-A-G
• MyVariant Identifiers: chr7:g.95820464A>G (hg19) ; chr7:g.96191152A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96191152A>G , CM000669.2:g.96191152A>G	GRCh38
NC_000007.13:g.95820464A>G , CM000669.1:g.95820464A>G	GRCh37
NC_000007.12:g.95658400A>G	NCBI36
NG_012247.1:g.135996T>C
NG_012247.2:g.135996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.711T>C MANE Select	ENSP00000265631.6:p.Tyr237=
ENST00000265631.9:c.711T>C	ENSP00000265631.5:p.Tyr237=
ENST00000416240.6:c.711T>C	ENSP00000400101.2:p.Tyr237=
NM_001160210.1:c.711T>C	NP_001153682.1:p.Tyr237=
NM_014251.2:c.711T>C	NP_055066.1:p.Tyr237=
NR_027662.1:n.786T>C
XM_006715831.2:c.744T>C	XP_006715894.1:p.Tyr248=
XM_011515727.1:c.744T>C	XP_011514029.1:p.Tyr248=
XM_011515728.1:c.-48T>C	XP_011514030.1:n.-48T>C
XM_006715831.4:c.744T>C	XP_006715894.1:p.Tyr248=
XM_011515727.3:c.744T>C	XP_011514029.1:p.Tyr248=
XM_017011663.1:c.702T>C	XP_016867152.1:p.Tyr234=
XM_017011664.2:c.-48T>C	XP_016867153.1:n.-48T>C
XM_017011665.1:c.-48T>C	XP_016867154.1:n.-48T>C
XR_001744525.2:n.882T>C
XR_002956405.1:n.1024T>C
NM_014251.3:c.711T>C MANE Select	NP_055066.1:p.Tyr237=
NR_027662.2:n.737T>C
NM_001160210.2:c.711T>C	NP_001153682.1:p.Tyr237=