Canonical Allele Identifier: CA2327544

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 901143
• ClinVar RCV Id: RCV001146844 ; RCV003769703
• dbSNP Id: rs763845960
• ExAC: 3:39436055 A / G
• gnomAD v2: 3-39436055-A-G
• gnomAD v3: 3-39394564-A-G
• gnomAD v4: 3-39394564-A-G
• MyVariant Identifiers: chr3:g.39436055A>G (hg19) ; chr3:g.39394564A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394564A>G , CM000665.2:g.39394564A>G	GRCh38
NC_000003.11:g.39436055A>G , CM000665.1:g.39436055A>G	GRCh37
NC_000003.10:g.39411059A>G	NCBI36
NG_016931.1:g.16241A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.732A>G	ENSP00000495376.1:p.Thr244=
ENST00000643672.1:c.729A>G	ENSP00000494532.1:p.Thr243=
ENST00000645280.1:c.726A>G	ENSP00000496690.1:p.Thr242=
ENST00000648579.1:c.*77A>G	ENSP00000497638.1:n.*77A>G
ENST00000650617.1:c.780A>G MANE Select	ENSP00000497532.1:p.Thr260=
ENST00000273158.8:c.780A>G	ENSP00000273158.3:p.Thr260=
NM_017875.2:c.780A>G	NP_060345.2:p.Thr260=
XM_006713214.1:c.768A>G	XP_006713277.1:p.Thr256=
XM_011533869.1:c.762A>G	XP_011532171.1:p.Thr254=
XM_011533870.1:c.729A>G	XP_011532172.1:p.Thr243=
XM_011533871.1:c.600A>G	XP_011532173.1:p.Thr200=
NM_001354798.1:c.626-1834A>G	NP_001341727.1:n.626-1834A>G
NM_017875.4:c.780A>G MANE Select	NP_060345.2:p.Thr260=
XM_006713214.2:c.768A>G	XP_006713277.1:p.Thr256=
XM_011533869.2:c.762A>G	XP_011532171.1:p.Thr254=
XM_024453611.1:c.726A>G	XP_024309379.1:p.Thr242=
NM_001354798.2:c.626-1834A>G	NP_001341727.1:n.626-1834A>G