Canonical Allele Identifier: CA352205411

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436012A>T (hg19) ; chr3:g.39394521A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394521A>T , CM000665.2:g.39394521A>T	GRCh38
NC_000003.11:g.39436012A>T , CM000665.1:g.39436012A>T	GRCh37
NC_000003.10:g.39411016A>T	NCBI36
NG_016931.1:g.16198A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.689A>T	ENSP00000495376.1:p.Gln230Leu
ENST00000643672.1:c.686A>T	ENSP00000494532.1:p.Gln229Leu
ENST00000645280.1:c.683A>T	ENSP00000496690.1:p.Gln228Leu
ENST00000648579.1:c.*34A>T	ENSP00000497638.1:n.*34A>T
ENST00000650617.1:c.737A>T MANE Select	ENSP00000497532.1:p.Gln246Leu
ENST00000273158.8:c.737A>T	ENSP00000273158.3:p.Gln246Leu
NM_017875.2:c.737A>T	NP_060345.2:p.Gln246Leu
XM_006713214.1:c.725A>T	XP_006713277.1:p.Gln242Leu
XM_011533869.1:c.719A>T	XP_011532171.1:p.Gln240Leu
XM_011533870.1:c.686A>T	XP_011532172.1:p.Gln229Leu
XM_011533871.1:c.557A>T	XP_011532173.1:p.Gln186Leu
NM_001354798.1:c.626-1877A>T	NP_001341727.1:n.626-1877A>T
NM_017875.4:c.737A>T MANE Select	NP_060345.2:p.Gln246Leu
XM_006713214.2:c.725A>T	XP_006713277.1:p.Gln242Leu
XM_011533869.2:c.719A>T	XP_011532171.1:p.Gln240Leu
XM_024453611.1:c.683A>T	XP_024309379.1:p.Gln228Leu
NM_001354798.2:c.626-1877A>T	NP_001341727.1:n.626-1877A>T