Canonical Allele Identifier: CA4352821

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1074885
• ClinVar RCV Id: RCV001388329
• dbSNP Id: rs201168119
• ExAC: 7:95751224 G / C
• gnomAD v2: 7-95751224-G-C
• gnomAD v4: 7-96121912-G-C
• MyVariant Identifiers: chr7:g.95751224G>C (hg19) ; chr7:g.96121912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121912G>C , CM000669.2:g.96121912G>C	GRCh38
NC_000007.13:g.95751224G>C , CM000669.1:g.95751224G>C	GRCh37
NC_000007.12:g.95589160G>C	NCBI36
NG_012247.1:g.205236C>G
NG_012247.2:g.205236C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1677C>G MANE Select	ENSP00000265631.6:p.Tyr559Ter
ENST00000265631.9:c.1677C>G	ENSP00000265631.5:p.Tyr559Ter
ENST00000416240.6:c.1680C>G	ENSP00000400101.2:p.Tyr560Ter
ENST00000494085.1:n.87C>G
NM_001160210.1:c.1680C>G	NP_001153682.1:p.Tyr560Ter
NM_014251.2:c.1677C>G	NP_055066.1:p.Tyr559Ter
NR_027662.1:n.1752C>G
XM_006715831.2:c.1710C>G	XP_006715894.1:p.Tyr570Ter
XM_011515728.1:c.825C>G	XP_011514030.1:p.Tyr275Ter
XM_006715831.4:c.1710C>G	XP_006715894.1:p.Tyr570Ter
XM_017011663.1:c.1668C>G	XP_016867152.1:p.Tyr556Ter
XM_017011664.2:c.825C>G	XP_016867153.1:p.Tyr275Ter
XM_017011665.1:c.825C>G	XP_016867154.1:p.Tyr275Ter
XR_001744525.2:n.1923C>G
XR_002956405.1:n.2481C>G
NM_014251.3:c.1677C>G MANE Select	NP_055066.1:p.Tyr559Ter
NR_027662.2:n.1703C>G
NM_001160210.2:c.1680C>G	NP_001153682.1:p.Tyr560Ter