Canonical Allele Identifier: CA368260048

Gene: SLC25A13

Linked Data

• gnomAD v4: 7-96184278-T-G
• MyVariant Identifiers: chr7:g.95813590T>G (hg19) ; chr7:g.96184278T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184278T>G , CM000669.2:g.96184278T>G	GRCh38
NC_000007.13:g.95813590T>G , CM000669.1:g.95813590T>G	GRCh37
NC_000007.12:g.95651526T>G	NCBI36
NG_012247.1:g.142870A>C
NG_012247.2:g.142870A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1176A>C MANE Select	ENSP00000265631.6:p.Arg392Ser
ENST00000265631.9:c.1176A>C	ENSP00000265631.5:p.Arg392Ser
ENST00000416240.6:c.1179A>C	ENSP00000400101.2:p.Arg393Ser
ENST00000484495.5:n.329A>C
ENST00000490072.5:n.243A>C
ENST00000492869.1:n.297A>C
NM_001160210.1:c.1179A>C	NP_001153682.1:p.Arg393Ser
NM_014251.2:c.1176A>C	NP_055066.1:p.Arg392Ser
NR_027662.1:n.1251A>C
XM_006715831.2:c.1209A>C	XP_006715894.1:p.Arg403Ser
XM_011515727.1:c.1209A>C	XP_011514029.1:p.Arg403Ser
XM_011515728.1:c.324A>C	XP_011514030.1:p.Arg108Ser
XM_006715831.4:c.1209A>C	XP_006715894.1:p.Arg403Ser
XM_011515727.3:c.1209A>C	XP_011514029.1:p.Arg403Ser
XM_017011663.1:c.1167A>C	XP_016867152.1:p.Arg389Ser
XM_017011664.2:c.324A>C	XP_016867153.1:p.Arg108Ser
XM_017011665.1:c.324A>C	XP_016867154.1:p.Arg108Ser
XR_001744525.2:n.1347A>C
XR_002956405.1:n.1980A>C
NM_014251.3:c.1176A>C MANE Select	NP_055066.1:p.Arg392Ser
NR_027662.2:n.1202A>C
NM_001160210.2:c.1179A>C	NP_001153682.1:p.Arg393Ser