Canonical Allele Identifier: CA4352747

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1596442
• ClinVar RCV Id: RCV002117370
• dbSNP Id: rs761035791
• ExAC: 7:95750628 C / A
• gnomAD v2: 7-95750628-C-A
• gnomAD v3: 7-96121316-C-A
• gnomAD v4: 7-96121316-C-A
• MyVariant Identifiers: chr7:g.95750628C>A (hg19) ; chr7:g.96121316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121316C>A , CM000669.2:g.96121316C>A	GRCh38
NC_000007.13:g.95750628C>A , CM000669.1:g.95750628C>A	GRCh37
NC_000007.12:g.95588564C>A	NCBI36
NG_012247.1:g.205832G>T
NG_012247.2:g.205832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1903G>T MANE Select	ENSP00000265631.6:p.Asp635Tyr
ENST00000265631.9:c.1903G>T	ENSP00000265631.5:p.Asp635Tyr
ENST00000416240.6:c.1906G>T	ENSP00000400101.2:p.Asp636Tyr
ENST00000494085.1:n.406G>T
NM_001160210.1:c.1906G>T	NP_001153682.1:p.Asp636Tyr
NM_014251.2:c.1903G>T	NP_055066.1:p.Asp635Tyr
NR_027662.1:n.1978G>T
XM_006715831.2:c.1936G>T	XP_006715894.1:p.Asp646Tyr
XM_011515728.1:c.1051G>T	XP_011514030.1:p.Asp351Tyr
XM_006715831.4:c.1936G>T	XP_006715894.1:p.Asp646Tyr
XM_017011663.1:c.1894G>T	XP_016867152.1:p.Asp632Tyr
XM_017011664.2:c.1051G>T	XP_016867153.1:p.Asp351Tyr
XM_017011665.1:c.1051G>T	XP_016867154.1:p.Asp351Tyr
XR_001744525.2:n.2149G>T
XR_002956405.1:n.2707G>T
NM_014251.3:c.1903G>T MANE Select	NP_055066.1:p.Asp635Tyr
NR_027662.2:n.1929G>T
NM_001160210.2:c.1906G>T	NP_001153682.1:p.Asp636Tyr