Canonical Allele Identifier: CA433164551

Gene: SLC25A38

Linked Data

• gnomAD v4: 3-39394481-C-T
• MyVariant Identifiers: chr3:g.39435972C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394481C>T , CM000665.2:g.39394481C>T	GRCh38
NC_000003.11:g.39435972C>T , CM000665.1:g.39435972C>T	GRCh37
NC_000003.10:g.39410976C>T	NCBI36
NG_016931.1:g.16158C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.649C>T	ENSP00000495376.1:p.Leu217=
ENST00000643672.1:c.646C>T	ENSP00000494532.1:p.Leu216=
ENST00000645280.1:c.643C>T	ENSP00000496690.1:p.Leu215=
ENST00000648579.1:c.753C>T	ENSP00000497638.1:p.His251=
ENST00000650617.1:c.697C>T MANE Select	ENSP00000497532.1:p.Leu233=
ENST00000273158.8:c.697C>T	ENSP00000273158.3:p.Leu233=
NM_017875.2:c.697C>T	NP_060345.2:p.Leu233=
XM_006713214.1:c.685C>T	XP_006713277.1:p.Leu229=
XM_011533869.1:c.679C>T	XP_011532171.1:p.Leu227=
XM_011533870.1:c.646C>T	XP_011532172.1:p.Leu216=
XM_011533871.1:c.517C>T	XP_011532173.1:p.Leu173=
NM_001354798.1:c.626-1917C>T	NP_001341727.1:n.626-1917C>T
NM_017875.4:c.697C>T MANE Select	NP_060345.2:p.Leu233=
XM_006713214.2:c.685C>T	XP_006713277.1:p.Leu229=
XM_011533869.2:c.679C>T	XP_011532171.1:p.Leu227=
XM_024453611.1:c.643C>T	XP_024309379.1:p.Leu215=
NM_001354798.2:c.626-1917C>T	NP_001341727.1:n.626-1917C>T