Canonical Allele Identifier: CA368257351
Gene: SLC25A13 HGNC NCBI

Linked Data

gnomAD v4: 7-96121311-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121311G>T , CM000669.2:g.96121311G>T GRCh38
NC_000007.13:g.95750623G>T , CM000669.1:g.95750623G>T GRCh37
NC_000007.12:g.95588559G>T NCBI36
NG_012247.1:g.205837C>A
NG_012247.2:g.205837C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1908C>A MANE Select ENSP00000265631.6:p.His636Gln
ENST00000265631.9:c.1908C>A ENSP00000265631.5:p.His636Gln
ENST00000416240.6:c.1911C>A ENSP00000400101.2:p.His637Gln
ENST00000494085.1:n.411C>A
NM_001160210.1:c.1911C>A NP_001153682.1:p.His637Gln
NM_014251.2:c.1908C>A NP_055066.1:p.His636Gln
NR_027662.1:n.1983C>A
XM_006715831.2:c.1941C>A XP_006715894.1:p.His647Gln
XM_011515728.1:c.1056C>A XP_011514030.1:p.His352Gln
XM_006715831.4:c.1941C>A XP_006715894.1:p.His647Gln
XM_017011663.1:c.1899C>A XP_016867152.1:p.His633Gln
XM_017011664.2:c.1056C>A XP_016867153.1:p.His352Gln
XM_017011665.1:c.1056C>A XP_016867154.1:p.His352Gln
XR_001744525.2:n.2154C>A
XR_002956405.1:n.2712C>A
NM_014251.3:c.1908C>A MANE Select NP_055066.1:p.His636Gln
NR_027662.2:n.1934C>A
NM_001160210.2:c.1911C>A NP_001153682.1:p.His637Gln