Canonical Allele Identifier: CA352204682

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435919T>A (hg19) ; chr3:g.39394428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394428T>A , CM000665.2:g.39394428T>A	GRCh38
NC_000003.11:g.39435919T>A , CM000665.1:g.39435919T>A	GRCh37
NC_000003.10:g.39410923T>A	NCBI36
NG_016931.1:g.16105T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.596T>A	ENSP00000495376.1:p.Leu199His
ENST00000643672.1:c.593T>A	ENSP00000494532.1:p.Leu198His
ENST00000645280.1:c.590T>A	ENSP00000496690.1:p.Leu197His
ENST00000648579.1:c.722-22T>A	ENSP00000497638.1:n.722-22T>A
ENST00000650617.1:c.644T>A MANE Select	ENSP00000497532.1:p.Leu215His
ENST00000273158.8:c.644T>A	ENSP00000273158.3:p.Leu215His
NM_017875.2:c.644T>A	NP_060345.2:p.Leu215His
XM_006713214.1:c.632T>A	XP_006713277.1:p.Leu211His
XM_011533869.1:c.626T>A	XP_011532171.1:p.Leu209His
XM_011533870.1:c.593T>A	XP_011532172.1:p.Leu198His
XM_011533871.1:c.464T>A	XP_011532173.1:p.Leu155His
NM_001354798.1:c.626-1970T>A	NP_001341727.1:n.626-1970T>A
NM_017875.4:c.644T>A MANE Select	NP_060345.2:p.Leu215His
XM_006713214.2:c.632T>A	XP_006713277.1:p.Leu211His
XM_011533869.2:c.626T>A	XP_011532171.1:p.Leu209His
XM_024453611.1:c.590T>A	XP_024309379.1:p.Leu197His
NM_001354798.2:c.626-1970T>A	NP_001341727.1:n.626-1970T>A