Canonical Allele Identifier: CA2665163183
Gene: SLC25A38 HGNC NCBI

Linked Data

gnomAD v4: 3-39394712-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394712C>T , CM000665.2:g.39394712C>T GRCh38
NC_000003.11:g.39436203C>T , CM000665.1:g.39436203C>T GRCh37
NC_000003.10:g.39411207C>T NCBI36
NG_016931.1:g.16389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000643672.1:c.741+136C>T ENSP00000494532.1:n.741+136C>T
ENST00000645280.1:c.738+136C>T ENSP00000496690.1:n.738+136C>T
ENST00000648579.1:c.*89+136C>T ENSP00000497638.1:n.*89+136C>T
ENST00000650617.1:c.792+136C>T MANE Select ENSP00000497532.1:n.792+136C>T
ENST00000273158.8:c.792+136C>T ENSP00000273158.3:n.792+136C>T
NM_017875.2:c.792+136C>T NP_060345.2:n.792+136C>T
XM_006713214.1:c.780+136C>T XP_006713277.1:n.780+136C>T
XM_011533869.1:c.774+136C>T XP_011532171.1:n.774+136C>T
XM_011533870.1:c.741+136C>T XP_011532172.1:n.741+136C>T
XM_011533871.1:c.612+136C>T XP_011532173.1:n.612+136C>T
NM_001354798.1:c.626-1686C>T NP_001341727.1:n.626-1686C>T
NM_017875.4:c.792+136C>T MANE Select NP_060345.2:n.792+136C>T
XM_006713214.2:c.780+136C>T XP_006713277.1:n.780+136C>T
XM_011533869.2:c.774+136C>T XP_011532171.1:n.774+136C>T
XM_024453611.1:c.738+136C>T XP_024309379.1:n.738+136C>T
NM_001354798.2:c.626-1686C>T NP_001341727.1:n.626-1686C>T