Canonical Allele Identifier: CA352205327

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436001A>T (hg19) ; chr3:g.39394510A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394510A>T , CM000665.2:g.39394510A>T	GRCh38
NC_000003.11:g.39436001A>T , CM000665.1:g.39436001A>T	GRCh37
NC_000003.10:g.39411005A>T	NCBI36
NG_016931.1:g.16187A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.678A>T	ENSP00000495376.1:p.Lys226Asn
ENST00000643672.1:c.675A>T	ENSP00000494532.1:p.Lys225Asn
ENST00000645280.1:c.672A>T	ENSP00000496690.1:p.Lys224Asn
ENST00000648579.1:c.*23A>T	ENSP00000497638.1:n.*23A>T
ENST00000650617.1:c.726A>T MANE Select	ENSP00000497532.1:p.Lys242Asn
ENST00000273158.8:c.726A>T	ENSP00000273158.3:p.Lys242Asn
NM_017875.2:c.726A>T	NP_060345.2:p.Lys242Asn
XM_006713214.1:c.714A>T	XP_006713277.1:p.Lys238Asn
XM_011533869.1:c.708A>T	XP_011532171.1:p.Lys236Asn
XM_011533870.1:c.675A>T	XP_011532172.1:p.Lys225Asn
XM_011533871.1:c.546A>T	XP_011532173.1:p.Lys182Asn
NM_001354798.1:c.626-1888A>T	NP_001341727.1:n.626-1888A>T
NM_017875.4:c.726A>T MANE Select	NP_060345.2:p.Lys242Asn
XM_006713214.2:c.714A>T	XP_006713277.1:p.Lys238Asn
XM_011533869.2:c.708A>T	XP_011532171.1:p.Lys236Asn
XM_024453611.1:c.672A>T	XP_024309379.1:p.Lys224Asn
NM_001354798.2:c.626-1888A>T	NP_001341727.1:n.626-1888A>T