Canonical Allele Identifier: CA456510839
Gene: SLC25A13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.95818626A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189314A>G , CM000669.2:g.96189314A>G GRCh38
NC_000007.13:g.95818626A>G , CM000669.1:g.95818626A>G GRCh37
NC_000007.12:g.95656562A>G NCBI36
NG_012247.1:g.137834T>C
NG_012247.2:g.137834T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.913T>C MANE Select ENSP00000265631.6:p.Leu305=
ENST00000265631.9:c.913T>C ENSP00000265631.5:p.Leu305=
ENST00000416240.6:c.913T>C ENSP00000400101.2:p.Leu305=
ENST00000484495.5:n.66T>C
NM_001160210.1:c.913T>C NP_001153682.1:p.Leu305=
NM_014251.2:c.913T>C NP_055066.1:p.Leu305=
NR_027662.1:n.988T>C
XM_006715831.2:c.946T>C XP_006715894.1:p.Leu316=
XM_011515727.1:c.946T>C XP_011514029.1:p.Leu316=
XM_011515728.1:c.61T>C XP_011514030.1:p.Leu21=
XM_006715831.4:c.946T>C XP_006715894.1:p.Leu316=
XM_011515727.3:c.946T>C XP_011514029.1:p.Leu316=
XM_017011663.1:c.904T>C XP_016867152.1:p.Leu302=
XM_017011664.2:c.61T>C XP_016867153.1:p.Leu21=
XM_017011665.1:c.61T>C XP_016867154.1:p.Leu21=
XR_001744525.2:n.1084T>C
XR_002956405.1:n.1226T>C
NM_014251.3:c.913T>C MANE Select NP_055066.1:p.Leu305=
NR_027662.2:n.939T>C
NM_001160210.2:c.913T>C NP_001153682.1:p.Leu305=