Canonical Allele Identifier: CA368257798

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1396539922
• gnomAD v2: 7-95751015-A-G
• gnomAD v3: 7-96121703-A-G
• gnomAD v4: 7-96121703-A-G
• MyVariant Identifiers: chr7:g.95751015A>G (hg19) ; chr7:g.96121703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121703A>G , CM000669.2:g.96121703A>G	GRCh38
NC_000007.13:g.95751015A>G , CM000669.1:g.95751015A>G	GRCh37
NC_000007.12:g.95588951A>G	NCBI36
NG_012247.1:g.205445T>C
NG_012247.2:g.205445T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1793T>C MANE Select	ENSP00000265631.6:p.Leu598Pro
ENST00000265631.9:c.1793T>C	ENSP00000265631.5:p.Leu598Pro
ENST00000416240.6:c.1796T>C	ENSP00000400101.2:p.Leu599Pro
ENST00000494085.1:n.296T>C
NM_001160210.1:c.1796T>C	NP_001153682.1:p.Leu599Pro
NM_014251.2:c.1793T>C	NP_055066.1:p.Leu598Pro
NR_027662.1:n.1868T>C
XM_006715831.2:c.1826T>C	XP_006715894.1:p.Leu609Pro
XM_011515728.1:c.941T>C	XP_011514030.1:p.Leu314Pro
XM_006715831.4:c.1826T>C	XP_006715894.1:p.Leu609Pro
XM_017011663.1:c.1784T>C	XP_016867152.1:p.Leu595Pro
XM_017011664.2:c.941T>C	XP_016867153.1:p.Leu314Pro
XM_017011665.1:c.941T>C	XP_016867154.1:p.Leu314Pro
XR_001744525.2:n.2039T>C
XR_002956405.1:n.2597T>C
NM_014251.3:c.1793T>C MANE Select	NP_055066.1:p.Leu598Pro
NR_027662.2:n.1819T>C
NM_001160210.2:c.1796T>C	NP_001153682.1:p.Leu599Pro