Canonical Allele Identifier: CA2327310

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 389484
• ClinVar RCV Id: RCV001698193
• dbSNP Id: rs139033679
• ExAC: 3:39425233 T / G
• gnomAD v2: 3-39425233-T-G
• gnomAD v3: 3-39383742-T-G
• gnomAD v4: 3-39383742-T-G
• MyVariant Identifiers: chr3:g.39425233T>G (hg19) ; chr3:g.39383742T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39383742T>G , CM000665.2:g.39383742T>G	GRCh38
NC_000003.11:g.39425233T>G , CM000665.1:g.39425233T>G	GRCh37
NC_000003.10:g.39400237T>G	NCBI36
NG_016931.1:g.5419T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.18T>G	ENSP00000495376.1:p.Arg6=
ENST00000645630.1:c.18T>G	ENSP00000493714.1:p.Arg6=
ENST00000648579.1:c.18T>G	ENSP00000497638.1:p.Arg6=
ENST00000650617.1:c.18T>G MANE Select	ENSP00000497532.1:p.Arg6=
ENST00000273158.8:c.18T>G	ENSP00000273158.3:p.Arg6=
ENST00000431510.1:c.-23T>G	ENSP00000394244.1:n.-23T>G
NM_017875.2:c.18T>G	NP_060345.2:p.Arg6=
XM_006713214.1:c.-23T>G	XP_006713277.1:n.-23T>G
XM_011533871.1:c.18T>G	XP_011532173.1:p.Arg6=
NM_001354798.1:c.18T>G	NP_001341727.1:p.Arg6=
NM_017875.4:c.18T>G MANE Select	NP_060345.2:p.Arg6=
XM_006713214.2:c.-23T>G	XP_006713277.1:n.-23T>G
NM_001354798.2:c.18T>G	NP_001341727.1:p.Arg6=