Canonical Allele Identifier: CA352199986
Community Standard Title: NM_017875.4(SLC25A38):c.276+1G>A
Gene: SLC25A38 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39390508G>A , CM000665.2:g.39390508G>A GRCh38
NC_000003.11:g.39431999G>A , CM000665.1:g.39431999G>A GRCh37
NC_000003.10:g.39407003G>A NCBI36
NG_016931.1:g.12185G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017875.4:c.276+1G>A MANE Select NP_060345.2:n.276+1G>A
ENST00000650617.1:c.276+1G>A MANE Select ENSP00000497532.1:n.276+1G>A
NM_001354798.1:c.276+1G>A NP_001341727.1:n.276+1G>A
NM_001354798.2:c.276+1G>A NP_001341727.1:n.276+1G>A
NM_017875.2:c.276+1G>A NP_060345.2:n.276+1G>A
ENST00000273158.8:c.276+1G>A ENSP00000273158.3:n.276+1G>A
ENST00000431510.1:c.264+1G>A ENSP00000394244.1:n.264+1G>A
ENST00000642442.1:n.338G>A
ENST00000642683.1:c.228+49G>A ENSP00000495376.1:n.228+49G>A
ENST00000642978.1:c.258+1G>A ENSP00000494342.1:n.258+1G>A
ENST00000643672.1:c.225+1G>A ENSP00000494532.1:n.225+1G>A
ENST00000645280.1:c.222+1G>A ENSP00000496690.1:n.222+1G>A
ENST00000645630.1:c.276+1G>A ENSP00000493714.1:n.276+1G>A
ENST00000648579.1:c.276+1G>A ENSP00000497638.1:n.276+1G>A
XM_006713214.1:c.264+1G>A XP_006713277.1:n.264+1G>A
XM_006713214.2:c.264+1G>A XP_006713277.1:n.264+1G>A
XM_011533869.1:c.258+1G>A XP_011532171.1:n.258+1G>A
XM_011533869.2:c.258+1G>A XP_011532171.1:n.258+1G>A
XM_011533870.1:c.225+1G>A XP_011532172.1:n.225+1G>A
XM_011533871.1:c.276+1G>A XP_011532173.1:n.276+1G>A
XM_024453611.1:c.222+1G>A XP_024309379.1:n.222+1G>A