Canonical Allele Identifier: CA368257543

Gene: SLC25A13

Linked Data

• gnomAD v4: 7-96121372-G-C
• MyVariant Identifiers: chr7:g.95750684G>C (hg19) ; chr7:g.96121372G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121372G>C , CM000669.2:g.96121372G>C	GRCh38
NC_000007.13:g.95750684G>C , CM000669.1:g.95750684G>C	GRCh37
NC_000007.12:g.95588620G>C	NCBI36
NG_012247.1:g.205776C>G
NG_012247.2:g.205776C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1847C>G MANE Select	ENSP00000265631.6:p.Pro616Arg
ENST00000265631.9:c.1847C>G	ENSP00000265631.5:p.Pro616Arg
ENST00000416240.6:c.1850C>G	ENSP00000400101.2:p.Pro617Arg
ENST00000494085.1:n.350C>G
NM_001160210.1:c.1850C>G	NP_001153682.1:p.Pro617Arg
NM_014251.2:c.1847C>G	NP_055066.1:p.Pro616Arg
NR_027662.1:n.1922C>G
XM_006715831.2:c.1880C>G	XP_006715894.1:p.Pro627Arg
XM_011515728.1:c.995C>G	XP_011514030.1:p.Pro332Arg
XM_006715831.4:c.1880C>G	XP_006715894.1:p.Pro627Arg
XM_017011663.1:c.1838C>G	XP_016867152.1:p.Pro613Arg
XM_017011664.2:c.995C>G	XP_016867153.1:p.Pro332Arg
XM_017011665.1:c.995C>G	XP_016867154.1:p.Pro332Arg
XR_001744525.2:n.2093C>G
XR_002956405.1:n.2651C>G
NM_014251.3:c.1847C>G MANE Select	NP_055066.1:p.Pro616Arg
NR_027662.2:n.1873C>G
NM_001160210.2:c.1850C>G	NP_001153682.1:p.Pro617Arg