Canonical Allele Identifier: CA368257440
Gene: SLC25A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121333A>G , CM000669.2:g.96121333A>G GRCh38
NC_000007.13:g.95750645A>G , CM000669.1:g.95750645A>G GRCh37
NC_000007.12:g.95588581A>G NCBI36
NG_012247.1:g.205815T>C
NG_012247.2:g.205815T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1886T>C MANE Select ENSP00000265631.6:p.Leu629Pro
ENST00000265631.9:c.1886T>C ENSP00000265631.5:p.Leu629Pro
ENST00000416240.6:c.1889T>C ENSP00000400101.2:p.Leu630Pro
ENST00000494085.1:n.389T>C
NM_001160210.1:c.1889T>C NP_001153682.1:p.Leu630Pro
NM_014251.2:c.1886T>C NP_055066.1:p.Leu629Pro
NR_027662.1:n.1961T>C
XM_006715831.2:c.1919T>C XP_006715894.1:p.Leu640Pro
XM_011515728.1:c.1034T>C XP_011514030.1:p.Leu345Pro
XM_006715831.4:c.1919T>C XP_006715894.1:p.Leu640Pro
XM_017011663.1:c.1877T>C XP_016867152.1:p.Leu626Pro
XM_017011664.2:c.1034T>C XP_016867153.1:p.Leu345Pro
XM_017011665.1:c.1034T>C XP_016867154.1:p.Leu345Pro
XR_001744525.2:n.2132T>C
XR_002956405.1:n.2690T>C
NM_014251.3:c.1886T>C MANE Select NP_055066.1:p.Leu629Pro
NR_027662.2:n.1912T>C
NM_001160210.2:c.1889T>C NP_001153682.1:p.Leu630Pro