Canonical Allele Identifier: CA114774
Gene: SLC25A38 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1122
ClinVar RCV Id: RCV000001181
dbSNP Id: rs121918332

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394574A>T , CM000665.2:g.39394574A>T GRCh38
NC_000003.10:g.39411069A>T NCBI36
NC_000003.11:g.39436065A>T , CM000665.1:g.39436065A>T GRCh37
NG_016931.1:g.16251A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000273158.8:c.790A>T ENSP00000273158.3:p.Lys264Ter
NM_017875.2:c.790A>T NP_060345.2:p.Lys264Ter
XM_006713214.1:c.778A>T XP_006713277.1:p.Lys260Ter
XM_011533869.1:c.772A>T XP_011532171.1:p.Lys258Ter
XM_011533870.1:c.739A>T XP_011532172.1:p.Lys247Ter
XM_011533871.1:c.610A>T XP_011532173.1:p.Lys204Ter