Canonical Allele Identifier: CA368262064
Gene: SLC25A13 HGNC NCBI

Linked Data

gnomAD v4: 7-96189311-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189311C>A , CM000669.2:g.96189311C>A GRCh38
NC_000007.13:g.95818623C>A , CM000669.1:g.95818623C>A GRCh37
NC_000007.12:g.95656559C>A NCBI36
NG_012247.1:g.137837G>T
NG_012247.2:g.137837G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.916G>T MANE Select ENSP00000265631.6:p.Ala306Ser
ENST00000265631.9:c.916G>T ENSP00000265631.5:p.Ala306Ser
ENST00000416240.6:c.916G>T ENSP00000400101.2:p.Ala306Ser
ENST00000484495.5:n.69G>T
NM_001160210.1:c.916G>T NP_001153682.1:p.Ala306Ser
NM_014251.2:c.916G>T NP_055066.1:p.Ala306Ser
NR_027662.1:n.991G>T
XM_006715831.2:c.949G>T XP_006715894.1:p.Ala317Ser
XM_011515727.1:c.949G>T XP_011514029.1:p.Ala317Ser
XM_011515728.1:c.64G>T XP_011514030.1:p.Ala22Ser
XM_006715831.4:c.949G>T XP_006715894.1:p.Ala317Ser
XM_011515727.3:c.949G>T XP_011514029.1:p.Ala317Ser
XM_017011663.1:c.907G>T XP_016867152.1:p.Ala303Ser
XM_017011664.2:c.64G>T XP_016867153.1:p.Ala22Ser
XM_017011665.1:c.64G>T XP_016867154.1:p.Ala22Ser
XR_001744525.2:n.1087G>T
XR_002956405.1:n.1229G>T
NM_014251.3:c.916G>T MANE Select NP_055066.1:p.Ala306Ser
NR_027662.2:n.942G>T
NM_001160210.2:c.916G>T NP_001153682.1:p.Ala306Ser