Canonical Allele Identifier: CA1047032101
Gene: SLC25A38 HGNC NCBI

Linked Data

dbSNP Id: rs2041805029
gnomAD v3: 3-39394241-T-A
gnomAD v4: 3-39394241-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394241T>A , CM000665.2:g.39394241T>A GRCh38
NC_000003.11:g.39435732T>A , CM000665.1:g.39435732T>A GRCh37
NC_000003.10:g.39410736T>A NCBI36
NG_016931.1:g.15918T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642683.1:c.578-169T>A ENSP00000495376.1:n.578-169T>A
ENST00000643672.1:c.575-169T>A ENSP00000494532.1:n.575-169T>A
ENST00000645280.1:c.572-169T>A ENSP00000496690.1:n.572-169T>A
ENST00000645630.1:c.446-169T>A ENSP00000493714.1:n.446-169T>A
ENST00000648579.1:c.722-209T>A ENSP00000497638.1:n.722-209T>A
ENST00000650617.1:c.626-169T>A MANE Select ENSP00000497532.1:n.626-169T>A
ENST00000273158.8:c.626-169T>A ENSP00000273158.3:n.626-169T>A
NM_017875.2:c.626-169T>A NP_060345.2:n.626-169T>A
XM_006713214.1:c.614-169T>A XP_006713277.1:n.614-169T>A
XM_011533869.1:c.608-169T>A XP_011532171.1:n.608-169T>A
XM_011533870.1:c.575-169T>A XP_011532172.1:n.575-169T>A
XM_011533871.1:c.446-169T>A XP_011532173.1:n.446-169T>A
NM_001354798.1:c.626-2157T>A NP_001341727.1:n.626-2157T>A
NM_017875.4:c.626-169T>A MANE Select NP_060345.2:n.626-169T>A
XM_006713214.2:c.614-169T>A XP_006713277.1:n.614-169T>A
XM_011533869.2:c.608-169T>A XP_011532171.1:n.608-169T>A
XM_024453611.1:c.572-169T>A XP_024309379.1:n.572-169T>A
NM_001354798.2:c.626-2157T>A NP_001341727.1:n.626-2157T>A