Canonical Allele Identifier: CA368262397
Gene: SLC25A13 HGNC NCBI

Linked Data

gnomAD v4: 7-96189372-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189372C>T , CM000669.2:g.96189372C>T GRCh38
NC_000007.13:g.95818684C>T , CM000669.1:g.95818684C>T GRCh37
NC_000007.12:g.95656620C>T NCBI36
NG_012247.1:g.137776G>A
NG_012247.2:g.137776G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.855G>A MANE Select ENSP00000265631.6:p.Met285Ile
ENST00000265631.9:c.855G>A ENSP00000265631.5:p.Met285Ile
ENST00000416240.6:c.855G>A ENSP00000400101.2:p.Met285Ile
ENST00000484495.5:n.8G>A
NM_001160210.1:c.855G>A NP_001153682.1:p.Met285Ile
NM_014251.2:c.855G>A NP_055066.1:p.Met285Ile
NR_027662.1:n.930G>A
XM_006715831.2:c.888G>A XP_006715894.1:p.Met296Ile
XM_011515727.1:c.888G>A XP_011514029.1:p.Met296Ile
XM_011515728.1:c.3G>A XP_011514030.1:p.Met1Ile
XM_006715831.4:c.888G>A XP_006715894.1:p.Met296Ile
XM_011515727.3:c.888G>A XP_011514029.1:p.Met296Ile
XM_017011663.1:c.846G>A XP_016867152.1:p.Met282Ile
XM_017011664.2:c.3G>A XP_016867153.1:p.Met1Ile
XM_017011665.1:c.3G>A XP_016867154.1:p.Met1Ile
XR_001744525.2:n.1026G>A
XR_002956405.1:n.1168G>A
NM_014251.3:c.855G>A MANE Select NP_055066.1:p.Met285Ile
NR_027662.2:n.881G>A
NM_001160210.2:c.855G>A NP_001153682.1:p.Met285Ile