Canonical Allele Identifier: CA1104719872

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1791508172
• gnomAD v3: 7-96121607-G-A
• gnomAD v4: 7-96121607-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121607G>A , CM000669.2:g.96121607G>A	GRCh38
NC_000007.13:g.95750919G>A , CM000669.1:g.95750919G>A	GRCh37
NC_000007.12:g.95588855G>A	NCBI36
NG_012247.1:g.205541C>T
NG_012247.2:g.205541C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1841+48C>T MANE Select	ENSP00000265631.6:n.1841+48C>T
ENST00000265631.9:c.1841+48C>T	ENSP00000265631.5:n.1841+48C>T
ENST00000416240.6:c.1844+48C>T	ENSP00000400101.2:n.1844+48C>T
ENST00000494085.1:n.344+48C>T
NM_001160210.1:c.1844+48C>T	NP_001153682.1:n.1844+48C>T
NM_014251.2:c.1841+48C>T	NP_055066.1:n.1841+48C>T
NR_027662.1:n.1916+48C>T
XM_006715831.2:c.1874+48C>T	XP_006715894.1:n.1874+48C>T
XM_011515728.1:c.989+48C>T	XP_011514030.1:n.989+48C>T
XM_006715831.4:c.1874+48C>T	XP_006715894.1:n.1874+48C>T
XM_017011663.1:c.1832+48C>T	XP_016867152.1:n.1832+48C>T
XM_017011664.2:c.989+48C>T	XP_016867153.1:n.989+48C>T
XM_017011665.1:c.989+48C>T	XP_016867154.1:n.989+48C>T
XR_001744525.2:n.2087+48C>T
XR_002956405.1:n.2645+48C>T
NM_014251.3:c.1841+48C>T MANE Select	NP_055066.1:n.1841+48C>T
NR_027662.2:n.1867+48C>T
NM_001160210.2:c.1844+48C>T	NP_001153682.1:n.1844+48C>T