Canonical Allele Identifier: CA368258235

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2812391
• ClinVar RCV Id: RCV003741735
• MyVariant Identifiers: chr7:g.95751224G>T (hg19) ; chr7:g.96121912G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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