Canonical Allele Identifier: CA162992192
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs566667986
gnomAD v2: 7-95750880-T-C
gnomAD v3: 7-96121568-T-C
gnomAD v4: 7-96121568-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121568T>C , CM000669.2:g.96121568T>C GRCh38
NC_000007.13:g.95750880T>C , CM000669.1:g.95750880T>C GRCh37
NC_000007.12:g.95588816T>C NCBI36
NG_012247.1:g.205580A>G
NG_012247.2:g.205580A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1841+87A>G MANE Select ENSP00000265631.6:n.1841+87A>G
ENST00000265631.9:c.1841+87A>G ENSP00000265631.5:n.1841+87A>G
ENST00000416240.6:c.1844+87A>G ENSP00000400101.2:n.1844+87A>G
ENST00000494085.1:n.344+87A>G
NM_001160210.1:c.1844+87A>G NP_001153682.1:n.1844+87A>G
NM_014251.2:c.1841+87A>G NP_055066.1:n.1841+87A>G
NR_027662.1:n.1916+87A>G
XM_006715831.2:c.1874+87A>G XP_006715894.1:n.1874+87A>G
XM_011515728.1:c.989+87A>G XP_011514030.1:n.989+87A>G
XM_006715831.4:c.1874+87A>G XP_006715894.1:n.1874+87A>G
XM_017011663.1:c.1832+87A>G XP_016867152.1:n.1832+87A>G
XM_017011664.2:c.989+87A>G XP_016867153.1:n.989+87A>G
XM_017011665.1:c.989+87A>G XP_016867154.1:n.989+87A>G
XR_001744525.2:n.2087+87A>G
XR_002956405.1:n.2645+87A>G
NM_014251.3:c.1841+87A>G MANE Select NP_055066.1:n.1841+87A>G
NR_027662.2:n.1867+87A>G
NM_001160210.2:c.1844+87A>G NP_001153682.1:n.1844+87A>G