Canonical Allele Identifier: CA4353028

Gene: SLC25A13

Linked Data

• dbSNP Id: rs774850623
• ExAC: 7:95813594 T / C
• gnomAD v2: 7-95813594-T-C
• gnomAD v4: 7-96184282-T-C
• MyVariant Identifiers: chr7:g.95813594T>C (hg19) ; chr7:g.96184282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184282T>C , CM000669.2:g.96184282T>C	GRCh38
NC_000007.13:g.95813594T>C , CM000669.1:g.95813594T>C	GRCh37
NC_000007.12:g.95651530T>C	NCBI36
NG_012247.1:g.142866A>G
NG_012247.2:g.142866A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1172A>G MANE Select	ENSP00000265631.6:p.Tyr391Cys
ENST00000265631.9:c.1172A>G	ENSP00000265631.5:p.Tyr391Cys
ENST00000416240.6:c.1175A>G	ENSP00000400101.2:p.Tyr392Cys
ENST00000484495.5:n.325A>G
ENST00000490072.5:n.239A>G
ENST00000492869.1:n.293A>G
NM_001160210.1:c.1175A>G	NP_001153682.1:p.Tyr392Cys
NM_014251.2:c.1172A>G	NP_055066.1:p.Tyr391Cys
NR_027662.1:n.1247A>G
XM_006715831.2:c.1205A>G	XP_006715894.1:p.Tyr402Cys
XM_011515727.1:c.1205A>G	XP_011514029.1:p.Tyr402Cys
XM_011515728.1:c.320A>G	XP_011514030.1:p.Tyr107Cys
XM_006715831.4:c.1205A>G	XP_006715894.1:p.Tyr402Cys
XM_011515727.3:c.1205A>G	XP_011514029.1:p.Tyr402Cys
XM_017011663.1:c.1163A>G	XP_016867152.1:p.Tyr388Cys
XM_017011664.2:c.320A>G	XP_016867153.1:p.Tyr107Cys
XM_017011665.1:c.320A>G	XP_016867154.1:p.Tyr107Cys
XR_001744525.2:n.1343A>G
XR_002956405.1:n.1976A>G
NM_014251.3:c.1172A>G MANE Select	NP_055066.1:p.Tyr391Cys
NR_027662.2:n.1198A>G
NM_001160210.2:c.1175A>G	NP_001153682.1:p.Tyr392Cys