Canonical Allele Identifier: CA433164682
Gene: SLC25A38 HGNC NCBI

Linked Data

dbSNP Id: rs778318538
gnomAD v2: 3-39435989-G-T
gnomAD v4: 3-39394498-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394498G>T , CM000665.2:g.39394498G>T GRCh38
NC_000003.11:g.39435989G>T , CM000665.1:g.39435989G>T GRCh37
NC_000003.10:g.39410993G>T NCBI36
NG_016931.1:g.16175G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642683.1:c.666G>T ENSP00000495376.1:p.Ala222=
ENST00000643672.1:c.663G>T ENSP00000494532.1:p.Ala221=
ENST00000645280.1:c.660G>T ENSP00000496690.1:p.Ala220=
ENST00000648579.1:c.*11G>T ENSP00000497638.1:n.*11G>T
ENST00000650617.1:c.714G>T MANE Select ENSP00000497532.1:p.Ala238=
ENST00000273158.8:c.714G>T ENSP00000273158.3:p.Ala238=
NM_017875.2:c.714G>T NP_060345.2:p.Ala238=
XM_006713214.1:c.702G>T XP_006713277.1:p.Ala234=
XM_011533869.1:c.696G>T XP_011532171.1:p.Ala232=
XM_011533870.1:c.663G>T XP_011532172.1:p.Ala221=
XM_011533871.1:c.534G>T XP_011532173.1:p.Ala178=
NM_001354798.1:c.626-1900G>T NP_001341727.1:n.626-1900G>T
NM_017875.4:c.714G>T MANE Select NP_060345.2:p.Ala238=
XM_006713214.2:c.702G>T XP_006713277.1:p.Ala234=
XM_011533869.2:c.696G>T XP_011532171.1:p.Ala232=
XM_024453611.1:c.660G>T XP_024309379.1:p.Ala220=
NM_001354798.2:c.626-1900G>T NP_001341727.1:n.626-1900G>T