Canonical Allele Identifier: CA4352818

Gene: SLC25A13

Linked Data

• dbSNP Id: rs758317710
• ExAC: 7:95751217 C / T
• gnomAD v2: 7-95751217-C-T
• gnomAD v3: 7-96121905-C-T
• gnomAD v4: 7-96121905-C-T
• MyVariant Identifiers: chr7:g.95751217C>T (hg19) ; chr7:g.96121905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121905C>T , CM000669.2:g.96121905C>T	GRCh38
NC_000007.13:g.95751217C>T , CM000669.1:g.95751217C>T	GRCh37
NC_000007.12:g.95589153C>T	NCBI36
NG_012247.1:g.205243G>A
NG_012247.2:g.205243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1684G>A MANE Select	ENSP00000265631.6:p.Val562Met
ENST00000265631.9:c.1684G>A	ENSP00000265631.5:p.Val562Met
ENST00000416240.6:c.1687G>A	ENSP00000400101.2:p.Val563Met
ENST00000494085.1:n.94G>A
NM_001160210.1:c.1687G>A	NP_001153682.1:p.Val563Met
NM_014251.2:c.1684G>A	NP_055066.1:p.Val562Met
NR_027662.1:n.1759G>A
XM_006715831.2:c.1717G>A	XP_006715894.1:p.Val573Met
XM_011515728.1:c.832G>A	XP_011514030.1:p.Val278Met
XM_006715831.4:c.1717G>A	XP_006715894.1:p.Val573Met
XM_017011663.1:c.1675G>A	XP_016867152.1:p.Val559Met
XM_017011664.2:c.832G>A	XP_016867153.1:p.Val278Met
XM_017011665.1:c.832G>A	XP_016867154.1:p.Val278Met
XR_001744525.2:n.1930G>A
XR_002956405.1:n.2488G>A
NM_014251.3:c.1684G>A MANE Select	NP_055066.1:p.Val562Met
NR_027662.2:n.1710G>A
NM_001160210.2:c.1687G>A	NP_001153682.1:p.Val563Met