Canonical Allele Identifier: CA433164843
Gene: SLC25A38 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.39436023C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394532C>T , CM000665.2:g.39394532C>T GRCh38
NC_000003.11:g.39436023C>T , CM000665.1:g.39436023C>T GRCh37
NC_000003.10:g.39411027C>T NCBI36
NG_016931.1:g.16209C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642683.1:c.700C>T ENSP00000495376.1:p.Leu234=
ENST00000643672.1:c.697C>T ENSP00000494532.1:p.Leu233=
ENST00000645280.1:c.694C>T ENSP00000496690.1:p.Leu232=
ENST00000648579.1:c.*45C>T ENSP00000497638.1:n.*45C>T
ENST00000650617.1:c.748C>T MANE Select ENSP00000497532.1:p.Leu250=
ENST00000273158.8:c.748C>T ENSP00000273158.3:p.Leu250=
NM_017875.2:c.748C>T NP_060345.2:p.Leu250=
XM_006713214.1:c.736C>T XP_006713277.1:p.Leu246=
XM_011533869.1:c.730C>T XP_011532171.1:p.Leu244=
XM_011533870.1:c.697C>T XP_011532172.1:p.Leu233=
XM_011533871.1:c.568C>T XP_011532173.1:p.Leu190=
NM_001354798.1:c.626-1866C>T NP_001341727.1:n.626-1866C>T
NM_017875.4:c.748C>T MANE Select NP_060345.2:p.Leu250=
XM_006713214.2:c.736C>T XP_006713277.1:p.Leu246=
XM_011533869.2:c.730C>T XP_011532171.1:p.Leu244=
XM_024453611.1:c.694C>T XP_024309379.1:p.Leu232=
NM_001354798.2:c.626-1866C>T NP_001341727.1:n.626-1866C>T