Canonical Allele Identifier: CA352205223
Gene: SLC25A38 HGNC NCBI

Linked Data

gnomAD v4: 3-39394496-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39394496G>T , CM000665.2:g.39394496G>T GRCh38
NC_000003.11:g.39435987G>T , CM000665.1:g.39435987G>T GRCh37
NC_000003.10:g.39410991G>T NCBI36
NG_016931.1:g.16173G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642683.1:c.664G>T ENSP00000495376.1:p.Ala222Ser
ENST00000643672.1:c.661G>T ENSP00000494532.1:p.Ala221Ser
ENST00000645280.1:c.658G>T ENSP00000496690.1:p.Ala220Ser
ENST00000648579.1:c.*9G>T ENSP00000497638.1:n.*9G>T
ENST00000650617.1:c.712G>T MANE Select ENSP00000497532.1:p.Ala238Ser
ENST00000273158.8:c.712G>T ENSP00000273158.3:p.Ala238Ser
NM_017875.2:c.712G>T NP_060345.2:p.Ala238Ser
XM_006713214.1:c.700G>T XP_006713277.1:p.Ala234Ser
XM_011533869.1:c.694G>T XP_011532171.1:p.Ala232Ser
XM_011533870.1:c.661G>T XP_011532172.1:p.Ala221Ser
XM_011533871.1:c.532G>T XP_011532173.1:p.Ala178Ser
NM_001354798.1:c.626-1902G>T NP_001341727.1:n.626-1902G>T
NM_017875.4:c.712G>T MANE Select NP_060345.2:p.Ala238Ser
XM_006713214.2:c.700G>T XP_006713277.1:p.Ala234Ser
XM_011533869.2:c.694G>T XP_011532171.1:p.Ala232Ser
XM_024453611.1:c.658G>T XP_024309379.1:p.Ala220Ser
NM_001354798.2:c.626-1902G>T NP_001341727.1:n.626-1902G>T