Canonical Allele Identifier: CA844190678
Community Standard Title: NM_014251.3(SLC25A13):c.1019-6T>C
Gene: SLC25A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96184441A>G , CM000669.2:g.96184441A>G GRCh38
NC_000007.13:g.95813753A>G , CM000669.1:g.95813753A>G GRCh37
NC_000007.12:g.95651689A>G NCBI36
NG_012247.1:g.142707T>C
NG_012247.2:g.142707T>C

Transcript Alleles

HGVS Amino-acid Change
NM_014251.3:c.1019-6T>C MANE Select NP_055066.1:n.1019-6T>C
ENST00000265631.10:c.1019-6T>C MANE Select ENSP00000265631.6:n.1019-6T>C
NM_001160210.1:c.1022-6T>C NP_001153682.1:n.1022-6T>C
NM_001160210.2:c.1022-6T>C NP_001153682.1:n.1022-6T>C
NM_014251.2:c.1019-6T>C NP_055066.1:n.1019-6T>C
NR_027662.1:n.1094-6T>C
NR_027662.2:n.1045-6T>C
ENST00000265631.9:c.1019-6T>C ENSP00000265631.5:n.1019-6T>C
ENST00000416240.6:c.1022-6T>C ENSP00000400101.2:n.1022-6T>C
ENST00000484495.5:n.172-6T>C
ENST00000490072.5:n.86-6T>C
ENST00000492869.1:n.134T>C
XM_006715831.2:c.1052-6T>C XP_006715894.1:n.1052-6T>C
XM_006715831.4:c.1052-6T>C XP_006715894.1:n.1052-6T>C
XM_011515727.1:c.1052-6T>C XP_011514029.1:n.1052-6T>C
XM_011515727.3:c.1052-6T>C XP_011514029.1:n.1052-6T>C
XM_011515728.1:c.167-6T>C XP_011514030.1:n.167-6T>C
XM_017011663.1:c.1010-6T>C XP_016867152.1:n.1010-6T>C
XM_017011664.2:c.167-6T>C XP_016867153.1:n.167-6T>C
XM_017011665.1:c.167-6T>C XP_016867154.1:n.167-6T>C
XR_001744525.2:n.1190-6T>C
XR_002956405.1:n.1817T>C