Canonical Allele Identifier: CA4352816

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 594072
• ClinVar RCV Id: RCV000729283 ; RCV002067092
• dbSNP Id: rs765192701
• ExAC: 7:95751206 G / A
• gnomAD v2: 7-95751206-G-A
• gnomAD v4: 7-96121894-G-A
• MyVariant Identifiers: chr7:g.95751206G>A (hg19) ; chr7:g.96121894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121894G>A , CM000669.2:g.96121894G>A	GRCh38
NC_000007.13:g.95751206G>A , CM000669.1:g.95751206G>A	GRCh37
NC_000007.12:g.95589142G>A	NCBI36
NG_012247.1:g.205254C>T
NG_012247.2:g.205254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1695C>T MANE Select	ENSP00000265631.6:p.Cys565=
ENST00000265631.9:c.1695C>T	ENSP00000265631.5:p.Cys565=
ENST00000416240.6:c.1698C>T	ENSP00000400101.2:p.Cys566=
ENST00000494085.1:n.105C>T
NM_001160210.1:c.1698C>T	NP_001153682.1:p.Cys566=
NM_014251.2:c.1695C>T	NP_055066.1:p.Cys565=
NR_027662.1:n.1770C>T
XM_006715831.2:c.1728C>T	XP_006715894.1:p.Cys576=
XM_011515728.1:c.843C>T	XP_011514030.1:p.Cys281=
XM_006715831.4:c.1728C>T	XP_006715894.1:p.Cys576=
XM_017011663.1:c.1686C>T	XP_016867152.1:p.Cys562=
XM_017011664.2:c.843C>T	XP_016867153.1:p.Cys281=
XM_017011665.1:c.843C>T	XP_016867154.1:p.Cys281=
XR_001744525.2:n.1941C>T
XR_002956405.1:n.2499C>T
NM_014251.3:c.1695C>T MANE Select	NP_055066.1:p.Cys565=
NR_027662.2:n.1721C>T
NM_001160210.2:c.1698C>T	NP_001153682.1:p.Cys566=