Canonical Allele Identifier: CA576707798

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1269888231
• gnomAD v2: 7-95750960-T-C
• gnomAD v3: 7-96121648-T-C
• gnomAD v4: 7-96121648-T-C
• MyVariant Identifiers: chr7:g.95750960T>C (hg19) ; chr7:g.96121648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121648T>C , CM000669.2:g.96121648T>C	GRCh38
NC_000007.13:g.95750960T>C , CM000669.1:g.95750960T>C	GRCh37
NC_000007.12:g.95588896T>C	NCBI36
NG_012247.1:g.205500A>G
NG_012247.2:g.205500A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1841+7A>G MANE Select	ENSP00000265631.6:n.1841+7A>G
ENST00000265631.9:c.1841+7A>G	ENSP00000265631.5:n.1841+7A>G
ENST00000416240.6:c.1844+7A>G	ENSP00000400101.2:n.1844+7A>G
ENST00000494085.1:n.344+7A>G
NM_001160210.1:c.1844+7A>G	NP_001153682.1:n.1844+7A>G
NM_014251.2:c.1841+7A>G	NP_055066.1:n.1841+7A>G
NR_027662.1:n.1916+7A>G
XM_006715831.2:c.1874+7A>G	XP_006715894.1:n.1874+7A>G
XM_011515728.1:c.989+7A>G	XP_011514030.1:n.989+7A>G
XM_006715831.4:c.1874+7A>G	XP_006715894.1:n.1874+7A>G
XM_017011663.1:c.1832+7A>G	XP_016867152.1:n.1832+7A>G
XM_017011664.2:c.989+7A>G	XP_016867153.1:n.989+7A>G
XM_017011665.1:c.989+7A>G	XP_016867154.1:n.989+7A>G
XR_001744525.2:n.2087+7A>G
XR_002956405.1:n.2645+7A>G
NM_014251.3:c.1841+7A>G MANE Select	NP_055066.1:n.1841+7A>G
NR_027662.2:n.1867+7A>G
NM_001160210.2:c.1844+7A>G	NP_001153682.1:n.1844+7A>G