Canonical Allele Identifier: CA368260074

Gene: SLC25A13

Linked Data

• gnomAD v4: 7-96184291-A-G
• MyVariant Identifiers: chr7:g.95813603A>G (hg19) ; chr7:g.96184291A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184291A>G , CM000669.2:g.96184291A>G	GRCh38
NC_000007.13:g.95813603A>G , CM000669.1:g.95813603A>G	GRCh37
NC_000007.12:g.95651539A>G	NCBI36
NG_012247.1:g.142857T>C
NG_012247.2:g.142857T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1163T>C MANE Select	ENSP00000265631.6:p.Phe388Ser
ENST00000265631.9:c.1163T>C	ENSP00000265631.5:p.Phe388Ser
ENST00000416240.6:c.1166T>C	ENSP00000400101.2:p.Phe389Ser
ENST00000484495.5:n.316T>C
ENST00000490072.5:n.230T>C
ENST00000492869.1:n.284T>C
NM_001160210.1:c.1166T>C	NP_001153682.1:p.Phe389Ser
NM_014251.2:c.1163T>C	NP_055066.1:p.Phe388Ser
NR_027662.1:n.1238T>C
XM_006715831.2:c.1196T>C	XP_006715894.1:p.Phe399Ser
XM_011515727.1:c.1196T>C	XP_011514029.1:p.Phe399Ser
XM_011515728.1:c.311T>C	XP_011514030.1:p.Phe104Ser
XM_006715831.4:c.1196T>C	XP_006715894.1:p.Phe399Ser
XM_011515727.3:c.1196T>C	XP_011514029.1:p.Phe399Ser
XM_017011663.1:c.1154T>C	XP_016867152.1:p.Phe385Ser
XM_017011664.2:c.311T>C	XP_016867153.1:p.Phe104Ser
XM_017011665.1:c.311T>C	XP_016867154.1:p.Phe104Ser
XR_001744525.2:n.1334T>C
XR_002956405.1:n.1967T>C
NM_014251.3:c.1163T>C MANE Select	NP_055066.1:p.Phe388Ser
NR_027662.2:n.1189T>C
NM_001160210.2:c.1166T>C	NP_001153682.1:p.Phe389Ser