Canonical Allele Identifier: CA4353107

Gene: SLC25A13

Linked Data

• dbSNP Id: rs372848335
• ExAC: 7:95818651 C / T
• gnomAD v2: 7-95818651-C-T
• COSMIC: COSM1659093
• MyVariant Identifiers: chr7:g.95818651C>T (hg19) ; chr7:g.96189339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189339C>T , CM000669.2:g.96189339C>T	GRCh38
NC_000007.13:g.95818651C>T , CM000669.1:g.95818651C>T	GRCh37
NC_000007.12:g.95656587C>T	NCBI36
NG_012247.1:g.137809G>A
NG_012247.2:g.137809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.888G>A MANE Select	ENSP00000265631.6:p.Leu296=
ENST00000265631.9:c.888G>A	ENSP00000265631.5:p.Leu296=
ENST00000416240.6:c.888G>A	ENSP00000400101.2:p.Leu296=
ENST00000484495.5:n.41G>A
NM_001160210.1:c.888G>A	NP_001153682.1:p.Leu296=
NM_014251.2:c.888G>A	NP_055066.1:p.Leu296=
NR_027662.1:n.963G>A
XM_006715831.2:c.921G>A	XP_006715894.1:p.Leu307=
XM_011515727.1:c.921G>A	XP_011514029.1:p.Leu307=
XM_011515728.1:c.36G>A	XP_011514030.1:p.Leu12=
XM_006715831.4:c.921G>A	XP_006715894.1:p.Leu307=
XM_011515727.3:c.921G>A	XP_011514029.1:p.Leu307=
XM_017011663.1:c.879G>A	XP_016867152.1:p.Leu293=
XM_017011664.2:c.36G>A	XP_016867153.1:p.Leu12=
XM_017011665.1:c.36G>A	XP_016867154.1:p.Leu12=
XR_001744525.2:n.1059G>A
XR_002956405.1:n.1201G>A
NM_014251.3:c.888G>A MANE Select	NP_055066.1:p.Leu296=
NR_027662.2:n.914G>A
NM_001160210.2:c.888G>A	NP_001153682.1:p.Leu296=