Canonical Allele Identifier: CA352205785

Gene: SLC25A38

Linked Data

• dbSNP Id: rs1256407752
• gnomAD v2: 3-39436056-C-T
• gnomAD v4: 3-39394565-C-T
• MyVariant Identifiers: chr3:g.39436056C>T (hg19) ; chr3:g.39394565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394565C>T , CM000665.2:g.39394565C>T	GRCh38
NC_000003.11:g.39436056C>T , CM000665.1:g.39436056C>T	GRCh37
NC_000003.10:g.39411060C>T	NCBI36
NG_016931.1:g.16242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.733C>T	ENSP00000495376.1:p.Leu245Phe
ENST00000643672.1:c.730C>T	ENSP00000494532.1:p.Leu244Phe
ENST00000645280.1:c.727C>T	ENSP00000496690.1:p.Leu243Phe
ENST00000648579.1:c.*78C>T	ENSP00000497638.1:n.*78C>T
ENST00000650617.1:c.781C>T MANE Select	ENSP00000497532.1:p.Leu261Phe
ENST00000273158.8:c.781C>T	ENSP00000273158.3:p.Leu261Phe
NM_017875.2:c.781C>T	NP_060345.2:p.Leu261Phe
XM_006713214.1:c.769C>T	XP_006713277.1:p.Leu257Phe
XM_011533869.1:c.763C>T	XP_011532171.1:p.Leu255Phe
XM_011533870.1:c.730C>T	XP_011532172.1:p.Leu244Phe
XM_011533871.1:c.601C>T	XP_011532173.1:p.Leu201Phe
NM_001354798.1:c.626-1833C>T	NP_001341727.1:n.626-1833C>T
NM_017875.4:c.781C>T MANE Select	NP_060345.2:p.Leu261Phe
XM_006713214.2:c.769C>T	XP_006713277.1:p.Leu257Phe
XM_011533869.2:c.763C>T	XP_011532171.1:p.Leu255Phe
XM_024453611.1:c.727C>T	XP_024309379.1:p.Leu243Phe
NM_001354798.2:c.626-1833C>T	NP_001341727.1:n.626-1833C>T