Canonical Allele Identifier: CA368258087

Gene: SLC25A13

Linked Data

• gnomAD v4: 7-96121877-C-G
• MyVariant Identifiers: chr7:g.95751189C>G (hg19) ; chr7:g.96121877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121877C>G , CM000669.2:g.96121877C>G	GRCh38
NC_000007.13:g.95751189C>G , CM000669.1:g.95751189C>G	GRCh37
NC_000007.12:g.95589125C>G	NCBI36
NG_012247.1:g.205271G>C
NG_012247.2:g.205271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1712G>C MANE Select	ENSP00000265631.6:p.Arg571Pro
ENST00000265631.9:c.1712G>C	ENSP00000265631.5:p.Arg571Pro
ENST00000416240.6:c.1715G>C	ENSP00000400101.2:p.Arg572Pro
ENST00000494085.1:n.122G>C
NM_001160210.1:c.1715G>C	NP_001153682.1:p.Arg572Pro
NM_014251.2:c.1712G>C	NP_055066.1:p.Arg571Pro
NR_027662.1:n.1787G>C
XM_006715831.2:c.1745G>C	XP_006715894.1:p.Arg582Pro
XM_011515728.1:c.860G>C	XP_011514030.1:p.Arg287Pro
XM_006715831.4:c.1745G>C	XP_006715894.1:p.Arg582Pro
XM_017011663.1:c.1703G>C	XP_016867152.1:p.Arg568Pro
XM_017011664.2:c.860G>C	XP_016867153.1:p.Arg287Pro
XM_017011665.1:c.860G>C	XP_016867154.1:p.Arg287Pro
XR_001744525.2:n.1958G>C
XR_002956405.1:n.2516G>C
NM_014251.3:c.1712G>C MANE Select	NP_055066.1:p.Arg571Pro
NR_027662.2:n.1738G>C
NM_001160210.2:c.1715G>C	NP_001153682.1:p.Arg572Pro