Canonical Allele Identifier: CA2665163106
Gene: SLC25A38 HGNC NCBI

Linked Data

gnomAD v4: 3-39394639-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394639T>C , CM000665.2:g.39394639T>C GRCh38
NC_000003.11:g.39436130T>C , CM000665.1:g.39436130T>C GRCh37
NC_000003.10:g.39411134T>C NCBI36
NG_016931.1:g.16316T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643672.1:c.741+63T>C ENSP00000494532.1:n.741+63T>C
ENST00000645280.1:c.738+63T>C ENSP00000496690.1:n.738+63T>C
ENST00000648579.1:c.*89+63T>C ENSP00000497638.1:n.*89+63T>C
ENST00000650617.1:c.792+63T>C MANE Select ENSP00000497532.1:n.792+63T>C
ENST00000273158.8:c.792+63T>C ENSP00000273158.3:n.792+63T>C
NM_017875.2:c.792+63T>C NP_060345.2:n.792+63T>C
XM_006713214.1:c.780+63T>C XP_006713277.1:n.780+63T>C
XM_011533869.1:c.774+63T>C XP_011532171.1:n.774+63T>C
XM_011533870.1:c.741+63T>C XP_011532172.1:n.741+63T>C
XM_011533871.1:c.612+63T>C XP_011532173.1:n.612+63T>C
NM_001354798.1:c.626-1759T>C NP_001341727.1:n.626-1759T>C
NM_017875.4:c.792+63T>C MANE Select NP_060345.2:n.792+63T>C
XM_006713214.2:c.780+63T>C XP_006713277.1:n.780+63T>C
XM_011533869.2:c.774+63T>C XP_011532171.1:n.774+63T>C
XM_024453611.1:c.738+63T>C XP_024309379.1:n.738+63T>C
NM_001354798.2:c.626-1759T>C NP_001341727.1:n.626-1759T>C