Canonical Allele Identifier: CA2665163919
Gene: SLC25A38 HGNC NCBI

Linked Data

gnomAD v4: 3-39397056-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39397056G>T , CM000665.2:g.39397056G>T GRCh38
NC_000003.11:g.39438547G>T , CM000665.1:g.39438547G>T GRCh37
NC_000003.10:g.39413551G>T NCBI36
NG_016931.1:g.18733G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000648579.1:c.*748G>T ENSP00000497638.1:n.*748G>T
ENST00000650617.1:c.*536G>T MANE Select ENSP00000497532.1:n.*536G>T
ENST00000273158.8:c.*536G>T ENSP00000273158.3:n.*536G>T
NM_017875.2:c.*536G>T NP_060345.2:n.*536G>T
XM_006713214.1:c.*536G>T XP_006713277.1:n.*536G>T
XM_011533869.1:c.*536G>T XP_011532171.1:n.*536G>T
XM_011533870.1:c.*536G>T XP_011532172.1:n.*536G>T
XM_011533871.1:c.*536G>T XP_011532173.1:n.*536G>T
NM_001354798.1:c.*570G>T NP_001341727.1:n.*570G>T
NM_017875.4:c.*536G>T MANE Select NP_060345.2:n.*536G>T
XM_006713214.2:c.*536G>T XP_006713277.1:n.*536G>T
XM_011533869.2:c.*536G>T XP_011532171.1:n.*536G>T
XM_024453611.1:c.*536G>T XP_024309379.1:n.*536G>T
NM_001354798.2:c.*570G>T NP_001341727.1:n.*570G>T