Canonical Allele Identifier: CA433164813
Gene: SLC25A38 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.39436016T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394525T>A , CM000665.2:g.39394525T>A GRCh38
NC_000003.11:g.39436016T>A , CM000665.1:g.39436016T>A GRCh37
NC_000003.10:g.39411020T>A NCBI36
NG_016931.1:g.16202T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642683.1:c.693T>A ENSP00000495376.1:p.Leu231=
ENST00000643672.1:c.690T>A ENSP00000494532.1:p.Leu230=
ENST00000645280.1:c.687T>A ENSP00000496690.1:p.Leu229=
ENST00000648579.1:c.*38T>A ENSP00000497638.1:n.*38T>A
ENST00000650617.1:c.741T>A MANE Select ENSP00000497532.1:p.Leu247=
ENST00000273158.8:c.741T>A ENSP00000273158.3:p.Leu247=
NM_017875.2:c.741T>A NP_060345.2:p.Leu247=
XM_006713214.1:c.729T>A XP_006713277.1:p.Leu243=
XM_011533869.1:c.723T>A XP_011532171.1:p.Leu241=
XM_011533870.1:c.690T>A XP_011532172.1:p.Leu230=
XM_011533871.1:c.561T>A XP_011532173.1:p.Leu187=
NM_001354798.1:c.626-1873T>A NP_001341727.1:n.626-1873T>A
NM_017875.4:c.741T>A MANE Select NP_060345.2:p.Leu247=
XM_006713214.2:c.729T>A XP_006713277.1:p.Leu243=
XM_011533869.2:c.723T>A XP_011532171.1:p.Leu241=
XM_024453611.1:c.687T>A XP_024309379.1:p.Leu229=
NM_001354798.2:c.626-1873T>A NP_001341727.1:n.626-1873T>A