Canonical Allele Identifier: CA4353146
Community Standard Title: NM_014251.3(SLC25A13):c.848+3A>C
Gene: SLC25A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189578T>G , CM000669.2:g.96189578T>G GRCh38
NC_000007.13:g.95818890T>G , CM000669.1:g.95818890T>G GRCh37
NC_000007.12:g.95656826T>G NCBI36
NG_012247.1:g.137570A>C
NG_012247.2:g.137570A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014251.3:c.848+3A>C MANE Select NP_055066.1:n.848+3A>C
ENST00000265631.10:c.848+3A>C MANE Select ENSP00000265631.6:n.848+3A>C
NM_001160210.1:c.848+3A>C NP_001153682.1:n.848+3A>C
NM_001160210.2:c.848+3A>C NP_001153682.1:n.848+3A>C
NM_014251.2:c.848+3A>C NP_055066.1:n.848+3A>C
NR_027662.1:n.923+3A>C
NR_027662.2:n.874+3A>C
ENST00000265631.9:c.848+3A>C ENSP00000265631.5:n.848+3A>C
ENST00000416240.6:c.848+3A>C ENSP00000400101.2:n.848+3A>C
XM_006715831.2:c.881+3A>C XP_006715894.1:n.881+3A>C
XM_006715831.4:c.881+3A>C XP_006715894.1:n.881+3A>C
XM_011515727.1:c.881+3A>C XP_011514029.1:n.881+3A>C
XM_011515727.3:c.881+3A>C XP_011514029.1:n.881+3A>C
XM_011515728.1:c.-4-200A>C XP_011514030.1:n.-4-200A>C
XM_017011663.1:c.839+3A>C XP_016867152.1:n.839+3A>C
XM_017011664.2:c.-4-200A>C XP_016867153.1:n.-4-200A>C
XM_017011665.1:c.-4-200A>C XP_016867154.1:n.-4-200A>C
XR_001744525.2:n.1019+3A>C
XR_002956405.1:n.1161+3A>C