Canonical Allele Identifier: CA10629688

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 361005
• ClinVar RCV Id: RCV000339907 ; RCV000402837
• dbSNP Id: rs886062525
• gnomAD v4: 7-96120861-C-A
• MyVariant Identifiers: chr7:g.95750173C>A (hg19) ; chr7:g.96120861C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96120861C>A , CM000669.2:g.96120861C>A	GRCh38
NC_000007.13:g.95750173C>A , CM000669.1:g.95750173C>A	GRCh37
NC_000007.12:g.95588109C>A	NCBI36
NG_012247.1:g.206287G>T
NG_012247.2:g.206287G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.*330G>T MANE Select	ENSP00000265631.6:n.*330G>T
ENST00000265631.9:c.*330G>T	ENSP00000265631.5:n.*330G>T
ENST00000416240.6:c.*330G>T	ENSP00000400101.2:n.*330G>T
NM_001160210.1:c.*330G>T	NP_001153682.1:n.*330G>T
NM_014251.2:c.*330G>T	NP_055066.1:n.*330G>T
NR_027662.1:n.2433G>T
XM_006715831.2:c.*330G>T	XP_006715894.1:n.*330G>T
XM_011515728.1:c.*330G>T	XP_011514030.1:n.*330G>T
XM_006715831.4:c.*330G>T	XP_006715894.1:n.*330G>T
XM_017011663.1:c.*330G>T	XP_016867152.1:n.*330G>T
XM_017011664.2:c.*330G>T	XP_016867153.1:n.*330G>T
XM_017011665.1:c.*330G>T	XP_016867154.1:n.*330G>T
XR_001744525.2:n.2604G>T
XR_002956405.1:n.3162G>T
NM_014251.3:c.*330G>T MANE Select	NP_055066.1:n.*330G>T
NR_027662.2:n.2384G>T
NM_001160210.2:c.*330G>T	NP_001153682.1:n.*330G>T