Canonical Allele Identifier: CA352205483

Gene: SLC25A38

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.700C>G	ENSP00000495376.1:p.Leu234Val
ENST00000643672.1:c.697C>G	ENSP00000494532.1:p.Leu233Val
ENST00000645280.1:c.694C>G	ENSP00000496690.1:p.Leu232Val
ENST00000648579.1:c.*45C>G	ENSP00000497638.1:n.*45C>G
ENST00000650617.1:c.748C>G MANE Select	ENSP00000497532.1:p.Leu250Val
ENST00000273158.8:c.748C>G	ENSP00000273158.3:p.Leu250Val
NM_017875.2:c.748C>G	NP_060345.2:p.Leu250Val
XM_006713214.1:c.736C>G	XP_006713277.1:p.Leu246Val
XM_011533869.1:c.730C>G	XP_011532171.1:p.Leu244Val
XM_011533870.1:c.697C>G	XP_011532172.1:p.Leu233Val
XM_011533871.1:c.568C>G	XP_011532173.1:p.Leu190Val
NM_001354798.1:c.626-1866C>G	NP_001341727.1:n.626-1866C>G
NM_017875.4:c.748C>G MANE Select	NP_060345.2:p.Leu250Val
XM_006713214.2:c.736C>G	XP_006713277.1:p.Leu246Val
XM_011533869.2:c.730C>G	XP_011532171.1:p.Leu244Val
XM_024453611.1:c.694C>G	XP_024309379.1:p.Leu232Val
NM_001354798.2:c.626-1866C>G	NP_001341727.1:n.626-1866C>G