Canonical Allele Identifier: CA352201510

Gene: SLC25A38

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39391604T>A , CM000665.2:g.39391604T>A	GRCh38
NC_000003.11:g.39433095T>A , CM000665.1:g.39433095T>A	GRCh37
NC_000003.10:g.39408099T>A	NCBI36
NG_016931.1:g.13281T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017875.4:c.440T>A MANE Select	NP_060345.2:p.Ile147Asn
ENST00000650617.1:c.440T>A MANE Select	ENSP00000497532.1:p.Ile147Asn
NM_001354798.1:c.440T>A	NP_001341727.1:p.Ile147Asn
NM_001354798.2:c.440T>A	NP_001341727.1:p.Ile147Asn
NM_017875.2:c.440T>A	NP_060345.2:p.Ile147Asn
ENST00000273158.8:c.440T>A	ENSP00000273158.3:p.Ile147Asn
ENST00000431510.1:c.428T>A	ENSP00000394244.1:p.Ile143Asn
ENST00000642683.1:c.392T>A	ENSP00000495376.1:p.Ile131Asn
ENST00000643672.1:c.389T>A	ENSP00000494532.1:p.Ile130Asn
ENST00000645280.1:c.386T>A	ENSP00000496690.1:p.Ile129Asn
ENST00000645630.1:c.277-249T>A	ENSP00000493714.1:n.277-249T>A
ENST00000648579.1:c.440T>A	ENSP00000497638.1:p.Ile147Asn
XM_006713214.1:c.428T>A	XP_006713277.1:p.Ile143Asn
XM_006713214.2:c.428T>A	XP_006713277.1:p.Ile143Asn
XM_011533869.1:c.422T>A	XP_011532171.1:p.Ile141Asn
XM_011533869.2:c.422T>A	XP_011532171.1:p.Ile141Asn
XM_011533870.1:c.389T>A	XP_011532172.1:p.Ile130Asn
XM_011533871.1:c.277-249T>A	XP_011532173.1:n.277-249T>A
XM_024453611.1:c.386T>A	XP_024309379.1:p.Ile129Asn