Canonical Allele Identifier: CA340498

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 6004
• ClinVar RCV Id: RCV000006372 ; RCV001004531 ; RCV001247797 ; RCV001826423 ; RCV003472982
• dbSNP Id: rs80338719
• ExAC: 7:95820501 G / T
• gnomAD v2: 7-95820501-G-T
• gnomAD v4: 7-96191189-G-T
• MyVariant Identifiers: chr7:g.95820501G>T (hg19) ; chr7:g.96191189G>T (hg38)
• PubMed: PMID:10369257 ; PMID:20301360

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96191189G>T , CM000669.2:g.96191189G>T	GRCh38
NC_000007.13:g.95820501G>T , CM000669.1:g.95820501G>T	GRCh37
NC_000007.12:g.95658437G>T	NCBI36
NG_012247.1:g.135959C>A
NG_012247.2:g.135959C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.674C>A MANE Select	ENSP00000265631.6:p.Ser225Ter
ENST00000265631.9:c.674C>A	ENSP00000265631.5:p.Ser225Ter
ENST00000416240.6:c.674C>A	ENSP00000400101.2:p.Ser225Ter
NM_001160210.1:c.674C>A	NP_001153682.1:p.Ser225Ter
NM_014251.2:c.674C>A	NP_055066.1:p.Ser225Ter
NR_027662.1:n.749C>A
XM_006715831.2:c.707C>A	XP_006715894.1:p.Ser236Ter
XM_011515727.1:c.707C>A	XP_011514029.1:p.Ser236Ter
XM_011515728.1:c.-85C>A	XP_011514030.1:n.-85C>A
XM_006715831.4:c.707C>A	XP_006715894.1:p.Ser236Ter
XM_011515727.3:c.707C>A	XP_011514029.1:p.Ser236Ter
XM_017011663.1:c.665C>A	XP_016867152.1:p.Ser222Ter
XM_017011664.2:c.-85C>A	XP_016867153.1:n.-85C>A
XM_017011665.1:c.-85C>A	XP_016867154.1:n.-85C>A
XR_001744525.2:n.845C>A
XR_002956405.1:n.987C>A
NM_014251.3:c.674C>A MANE Select	NP_055066.1:p.Ser225Ter
NR_027662.2:n.700C>A
NM_001160210.2:c.674C>A	NP_001153682.1:p.Ser225Ter