Canonical Allele Identifier: CA162994062

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 856832
• ClinVar RCV Id: RCV001062379 ; RCV001827396
• dbSNP Id: rs922613966
• gnomAD v4: 7-96189305-C-T
• MyVariant Identifiers: chr7:g.95818617C>T (hg19) ; chr7:g.96189305C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189305C>T , CM000669.2:g.96189305C>T	GRCh38
NC_000007.13:g.95818617C>T , CM000669.1:g.95818617C>T	GRCh37
NC_000007.12:g.95656553C>T	NCBI36
NG_012247.1:g.137843G>A
NG_012247.2:g.137843G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.922G>A MANE Select	ENSP00000265631.6:p.Ala308Thr
ENST00000265631.9:c.922G>A	ENSP00000265631.5:p.Ala308Thr
ENST00000416240.6:c.922G>A	ENSP00000400101.2:p.Ala308Thr
ENST00000484495.5:n.75G>A
NM_001160210.1:c.922G>A	NP_001153682.1:p.Ala308Thr
NM_014251.2:c.922G>A	NP_055066.1:p.Ala308Thr
NR_027662.1:n.997G>A
XM_006715831.2:c.955G>A	XP_006715894.1:p.Ala319Thr
XM_011515727.1:c.955G>A	XP_011514029.1:p.Ala319Thr
XM_011515728.1:c.70G>A	XP_011514030.1:p.Ala24Thr
XM_006715831.4:c.955G>A	XP_006715894.1:p.Ala319Thr
XM_011515727.3:c.955G>A	XP_011514029.1:p.Ala319Thr
XM_017011663.1:c.913G>A	XP_016867152.1:p.Ala305Thr
XM_017011664.2:c.70G>A	XP_016867153.1:p.Ala24Thr
XM_017011665.1:c.70G>A	XP_016867154.1:p.Ala24Thr
XR_001744525.2:n.1093G>A
XR_002956405.1:n.1235G>A
NM_014251.3:c.922G>A MANE Select	NP_055066.1:p.Ala308Thr
NR_027662.2:n.948G>A
NM_001160210.2:c.922G>A	NP_001153682.1:p.Ala308Thr