Canonical Allele Identifier: CA4353386
Community Standard Title: NM_014251.3(SLC25A13):c.90C>T (p.Asn30=)
Gene: SLC25A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96277318G>A , CM000669.2:g.96277318G>A GRCh38
NC_000007.13:g.95906630G>A , CM000669.1:g.95906630G>A GRCh37
NC_000007.12:g.95744566G>A NCBI36
NG_012247.1:g.49830C>T
NG_012247.2:g.49830C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014251.3:c.90C>T MANE Select NP_055066.1:p.Asn30=
ENST00000265631.10:c.90C>T MANE Select ENSP00000265631.6:p.Asn30=
NM_001160210.1:c.90C>T NP_001153682.1:p.Asn30=
NM_001160210.2:c.90C>T NP_001153682.1:p.Asn30=
NM_014251.2:c.90C>T NP_055066.1:p.Asn30=
NR_027662.1:n.281C>T
NR_027662.2:n.232C>T
ENST00000265631.9:c.90C>T ENSP00000265631.5:p.Asn30=
ENST00000416240.6:c.90C>T ENSP00000400101.2:p.Asn30=
ENST00000472162.2:c.90C>T ENSP00000473505.1:p.Asn30=
XM_006715831.2:c.123C>T XP_006715894.1:p.Asn41=
XM_006715831.4:c.123C>T XP_006715894.1:p.Asn41=
XM_011515727.1:c.123C>T XP_011514029.1:p.Asn41=
XM_011515727.3:c.123C>T XP_011514029.1:p.Asn41=
XM_017011663.1:c.81C>T XP_016867152.1:p.Asn27=
XM_017011664.2:c.-669C>T XP_016867153.1:n.-669C>T
XM_017011665.1:c.-553C>T XP_016867154.1:n.-553C>T
XR_001744525.2:n.261C>T
XR_002956405.1:n.403C>T