Canonical Allele Identifier: CA368260334
Community Standard Title: NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)
Gene: SLC25A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96184406C>T , CM000669.2:g.96184406C>T GRCh38
NC_000007.13:g.95813718C>T , CM000669.1:g.95813718C>T GRCh37
NC_000007.12:g.95651654C>T NCBI36
NG_012247.1:g.142742G>A
NG_012247.2:g.142742G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014251.3:c.1048G>A MANE Select NP_055066.1:p.Asp350Asn
ENST00000265631.10:c.1048G>A MANE Select ENSP00000265631.6:p.Asp350Asn
NM_001160210.1:c.1051G>A NP_001153682.1:p.Asp351Asn
NM_001160210.2:c.1051G>A NP_001153682.1:p.Asp351Asn
NM_014251.2:c.1048G>A NP_055066.1:p.Asp350Asn
NR_027662.1:n.1123G>A
NR_027662.2:n.1074G>A
ENST00000265631.9:c.1048G>A ENSP00000265631.5:p.Asp350Asn
ENST00000416240.6:c.1051G>A ENSP00000400101.2:p.Asp351Asn
ENST00000484495.5:n.201G>A
ENST00000490072.5:n.115G>A
ENST00000492869.1:n.169G>A
XM_006715831.2:c.1081G>A XP_006715894.1:p.Asp361Asn
XM_006715831.4:c.1081G>A XP_006715894.1:p.Asp361Asn
XM_011515727.1:c.1081G>A XP_011514029.1:p.Asp361Asn
XM_011515727.3:c.1081G>A XP_011514029.1:p.Asp361Asn
XM_011515728.1:c.196G>A XP_011514030.1:p.Asp66Asn
XM_017011663.1:c.1039G>A XP_016867152.1:p.Asp347Asn
XM_017011664.2:c.196G>A XP_016867153.1:p.Asp66Asn
XM_017011665.1:c.196G>A XP_016867154.1:p.Asp66Asn
XR_001744525.2:n.1219G>A
XR_002956405.1:n.1852G>A