Canonical Allele Identifier: CA352205481

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436023C>A (hg19) ; chr3:g.39394532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394532C>A , CM000665.2:g.39394532C>A	GRCh38
NC_000003.11:g.39436023C>A , CM000665.1:g.39436023C>A	GRCh37
NC_000003.10:g.39411027C>A	NCBI36
NG_016931.1:g.16209C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.700C>A	ENSP00000495376.1:p.Leu234Met
ENST00000643672.1:c.697C>A	ENSP00000494532.1:p.Leu233Met
ENST00000645280.1:c.694C>A	ENSP00000496690.1:p.Leu232Met
ENST00000648579.1:c.*45C>A	ENSP00000497638.1:n.*45C>A
ENST00000650617.1:c.748C>A MANE Select	ENSP00000497532.1:p.Leu250Met
ENST00000273158.8:c.748C>A	ENSP00000273158.3:p.Leu250Met
NM_017875.2:c.748C>A	NP_060345.2:p.Leu250Met
XM_006713214.1:c.736C>A	XP_006713277.1:p.Leu246Met
XM_011533869.1:c.730C>A	XP_011532171.1:p.Leu244Met
XM_011533870.1:c.697C>A	XP_011532172.1:p.Leu233Met
XM_011533871.1:c.568C>A	XP_011532173.1:p.Leu190Met
NM_001354798.1:c.626-1866C>A	NP_001341727.1:n.626-1866C>A
NM_017875.4:c.748C>A MANE Select	NP_060345.2:p.Leu250Met
XM_006713214.2:c.736C>A	XP_006713277.1:p.Leu246Met
XM_011533869.2:c.730C>A	XP_011532171.1:p.Leu244Met
XM_024453611.1:c.694C>A	XP_024309379.1:p.Leu232Met
NM_001354798.2:c.626-1866C>A	NP_001341727.1:n.626-1866C>A