Canonical Allele Identifier: CA906962565
Gene: SLC25A38 HGNC NCBI

Linked Data

dbSNP Id: rs1270459922
gnomAD v3: 3-39397031-T-C
gnomAD v4: 3-39397031-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39397031T>C , CM000665.2:g.39397031T>C GRCh38
NC_000003.11:g.39438522T>C , CM000665.1:g.39438522T>C GRCh37
NC_000003.10:g.39413526T>C NCBI36
NG_016931.1:g.18708T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000648579.1:c.*723T>C ENSP00000497638.1:n.*723T>C
ENST00000650617.1:c.*511T>C MANE Select ENSP00000497532.1:n.*511T>C
ENST00000273158.8:c.*511T>C ENSP00000273158.3:n.*511T>C
NM_017875.2:c.*511T>C NP_060345.2:n.*511T>C
XM_006713214.1:c.*511T>C XP_006713277.1:n.*511T>C
XM_011533869.1:c.*511T>C XP_011532171.1:n.*511T>C
XM_011533870.1:c.*511T>C XP_011532172.1:n.*511T>C
XM_011533871.1:c.*511T>C XP_011532173.1:n.*511T>C
NM_001354798.1:c.*545T>C NP_001341727.1:n.*545T>C
NM_017875.4:c.*511T>C MANE Select NP_060345.2:n.*511T>C
XM_006713214.2:c.*511T>C XP_006713277.1:n.*511T>C
XM_011533869.2:c.*511T>C XP_011532171.1:n.*511T>C
XM_024453611.1:c.*511T>C XP_024309379.1:n.*511T>C
NM_001354798.2:c.*545T>C NP_001341727.1:n.*545T>C