Canonical Allele Identifier: CA456510243

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1477201903
• gnomAD v4: 7-96184296-G-A
• MyVariant Identifiers: chr7:g.95813608G>A (hg19) ; chr7:g.96184296G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184296G>A , CM000669.2:g.96184296G>A	GRCh38
NC_000007.13:g.95813608G>A , CM000669.1:g.95813608G>A	GRCh37
NC_000007.12:g.95651544G>A	NCBI36
NG_012247.1:g.142852C>T
NG_012247.2:g.142852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1158C>T MANE Select	ENSP00000265631.6:p.Gly386=
ENST00000265631.9:c.1158C>T	ENSP00000265631.5:p.Gly386=
ENST00000416240.6:c.1161C>T	ENSP00000400101.2:p.Gly387=
ENST00000484495.5:n.311C>T
ENST00000490072.5:n.225C>T
ENST00000492869.1:n.279C>T
NM_001160210.1:c.1161C>T	NP_001153682.1:p.Gly387=
NM_014251.2:c.1158C>T	NP_055066.1:p.Gly386=
NR_027662.1:n.1233C>T
XM_006715831.2:c.1191C>T	XP_006715894.1:p.Gly397=
XM_011515727.1:c.1191C>T	XP_011514029.1:p.Gly397=
XM_011515728.1:c.306C>T	XP_011514030.1:p.Gly102=
XM_006715831.4:c.1191C>T	XP_006715894.1:p.Gly397=
XM_011515727.3:c.1191C>T	XP_011514029.1:p.Gly397=
XM_017011663.1:c.1149C>T	XP_016867152.1:p.Gly383=
XM_017011664.2:c.306C>T	XP_016867153.1:p.Gly102=
XM_017011665.1:c.306C>T	XP_016867154.1:p.Gly102=
XR_001744525.2:n.1329C>T
XR_002956405.1:n.1962C>T
NM_014251.3:c.1158C>T MANE Select	NP_055066.1:p.Gly386=
NR_027662.2:n.1184C>T
NM_001160210.2:c.1161C>T	NP_001153682.1:p.Gly387=