Canonical Allele Identifier: CA352203991
Community Standard Title: NM_017875.4(SLC25A38):c.625G>T (p.Asp209Tyr)
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39392021G>T , CM000665.2:g.39392021G>T GRCh38
NC_000003.11:g.39433512G>T , CM000665.1:g.39433512G>T GRCh37
NC_000003.10:g.39408516G>T NCBI36
NG_016931.1:g.13698G>T

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.625G>T MANE Select NP_060345.2:p.Asp209Tyr
ENST00000650617.1:c.625G>T MANE Select ENSP00000497532.1:p.Asp209Tyr
NM_001354798.1:c.625G>T NP_001341727.1:p.Gly209Ter
NM_001354798.2:c.625G>T NP_001341727.1:p.Gly209Ter
NM_017875.2:c.625G>T NP_060345.2:p.Asp209Tyr
ENST00000273158.8:c.625G>T ENSP00000273158.3:p.Asp209Tyr
ENST00000642683.1:c.577G>T ENSP00000495376.1:p.Asp193Tyr
ENST00000643672.1:c.574G>T ENSP00000494532.1:p.Asp192Tyr
ENST00000645280.1:c.571G>T ENSP00000496690.1:p.Asp191Tyr
ENST00000645630.1:c.445G>T ENSP00000493714.1:p.Asp149Tyr
ENST00000648579.1:c.625G>T ENSP00000497638.1:p.Val209Leu
XM_006713214.1:c.613G>T XP_006713277.1:p.Asp205Tyr
XM_006713214.2:c.613G>T XP_006713277.1:p.Asp205Tyr
XM_011533869.1:c.607G>T XP_011532171.1:p.Asp203Tyr
XM_011533869.2:c.607G>T XP_011532171.1:p.Asp203Tyr
XM_011533870.1:c.574G>T XP_011532172.1:p.Asp192Tyr
XM_011533871.1:c.445G>T XP_011532173.1:p.Asp149Tyr
XM_024453611.1:c.571G>T XP_024309379.1:p.Asp191Tyr