Canonical Allele Identifier: CA4352731

Gene: SLC25A13

Linked Data

• dbSNP Id: rs764619502
• ExAC: 7:95750523 C / A
• gnomAD v2: 7-95750523-C-A
• gnomAD v3: 7-96121211-C-A
• gnomAD v4: 7-96121211-C-A
• MyVariant Identifiers: chr7:g.95750523C>A (hg19) ; chr7:g.96121211C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121211C>A , CM000669.2:g.96121211C>A	GRCh38
NC_000007.13:g.95750523C>A , CM000669.1:g.95750523C>A	GRCh37
NC_000007.12:g.95588459C>A	NCBI36
NG_012247.1:g.205937G>T
NG_012247.2:g.205937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.2008G>T MANE Select	ENSP00000265631.6:p.Ala670Ser
ENST00000265631.9:c.2008G>T	ENSP00000265631.5:p.Ala670Ser
ENST00000416240.6:c.2011G>T	ENSP00000400101.2:p.Ala671Ser
ENST00000494085.1:n.511G>T
NM_001160210.1:c.2011G>T	NP_001153682.1:p.Ala671Ser
NM_014251.2:c.2008G>T	NP_055066.1:p.Ala670Ser
NR_027662.1:n.2083G>T
XM_006715831.2:c.2041G>T	XP_006715894.1:p.Ala681Ser
XM_011515728.1:c.1156G>T	XP_011514030.1:p.Ala386Ser
XM_006715831.4:c.2041G>T	XP_006715894.1:p.Ala681Ser
XM_017011663.1:c.1999G>T	XP_016867152.1:p.Ala667Ser
XM_017011664.2:c.1156G>T	XP_016867153.1:p.Ala386Ser
XM_017011665.1:c.1156G>T	XP_016867154.1:p.Ala386Ser
XR_001744525.2:n.2254G>T
XR_002956405.1:n.2812G>T
NM_014251.3:c.2008G>T MANE Select	NP_055066.1:p.Ala670Ser
NR_027662.2:n.2034G>T
NM_001160210.2:c.2011G>T	NP_001153682.1:p.Ala671Ser