Canonical Allele Identifier: CA2327542

Gene: SLC25A38

Linked Data

• dbSNP Id: rs775110434
• ExAC: 3:39436034 A / G
• gnomAD v2: 3-39436034-A-G
• gnomAD v3: 3-39394543-A-G
• gnomAD v4: 3-39394543-A-G
• MyVariant Identifiers: chr3:g.39436034A>G (hg19) ; chr3:g.39394543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394543A>G , CM000665.2:g.39394543A>G	GRCh38
NC_000003.11:g.39436034A>G , CM000665.1:g.39436034A>G	GRCh37
NC_000003.10:g.39411038A>G	NCBI36
NG_016931.1:g.16220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.711A>G	ENSP00000495376.1:p.Gln237=
ENST00000643672.1:c.708A>G	ENSP00000494532.1:p.Gln236=
ENST00000645280.1:c.705A>G	ENSP00000496690.1:p.Gln235=
ENST00000648579.1:c.*56A>G	ENSP00000497638.1:n.*56A>G
ENST00000650617.1:c.759A>G MANE Select	ENSP00000497532.1:p.Gln253=
ENST00000273158.8:c.759A>G	ENSP00000273158.3:p.Gln253=
NM_017875.2:c.759A>G	NP_060345.2:p.Gln253=
XM_006713214.1:c.747A>G	XP_006713277.1:p.Gln249=
XM_011533869.1:c.741A>G	XP_011532171.1:p.Gln247=
XM_011533870.1:c.708A>G	XP_011532172.1:p.Gln236=
XM_011533871.1:c.579A>G	XP_011532173.1:p.Gln193=
NM_001354798.1:c.626-1855A>G	NP_001341727.1:n.626-1855A>G
NM_017875.4:c.759A>G MANE Select	NP_060345.2:p.Gln253=
XM_006713214.2:c.747A>G	XP_006713277.1:p.Gln249=
XM_011533869.2:c.741A>G	XP_011532171.1:p.Gln247=
XM_024453611.1:c.705A>G	XP_024309379.1:p.Gln235=
NM_001354798.2:c.626-1855A>G	NP_001341727.1:n.626-1855A>G