Canonical Allele Identifier: CA2327474

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 345149
• ClinVar RCV Id: RCV000302332 ; RCV000407906
• dbSNP Id: rs369980078
• ExAC: 3:39433349 G / A
• gnomAD v2: 3-39433349-G-A
• gnomAD v3: 3-39391858-G-A
• gnomAD v4: 3-39391858-G-A
• MyVariant Identifiers: chr3:g.39433349G>A (hg19) ; chr3:g.39391858G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39391858G>A , CM000665.2:g.39391858G>A	GRCh38
NC_000003.11:g.39433349G>A , CM000665.1:g.39433349G>A	GRCh37
NC_000003.10:g.39408353G>A	NCBI36
NG_016931.1:g.13535G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.414G>A	ENSP00000495376.1:p.Gly138=
ENST00000643672.1:c.411G>A	ENSP00000494532.1:p.Gly137=
ENST00000645280.1:c.408G>A	ENSP00000496690.1:p.Gly136=
ENST00000645630.1:c.282G>A	ENSP00000493714.1:p.Gly94=
ENST00000648579.1:c.462G>A	ENSP00000497638.1:p.Gly154=
ENST00000650617.1:c.462G>A MANE Select	ENSP00000497532.1:p.Gly154=
ENST00000273158.8:c.462G>A	ENSP00000273158.3:p.Gly154=
NM_017875.2:c.462G>A	NP_060345.2:p.Gly154=
XM_006713214.1:c.450G>A	XP_006713277.1:p.Gly150=
XM_011533869.1:c.444G>A	XP_011532171.1:p.Gly148=
XM_011533870.1:c.411G>A	XP_011532172.1:p.Gly137=
XM_011533871.1:c.282G>A	XP_011532173.1:p.Gly94=
NM_001354798.1:c.462G>A	NP_001341727.1:p.Gly154=
NM_017875.4:c.462G>A MANE Select	NP_060345.2:p.Gly154=
XM_006713214.2:c.450G>A	XP_006713277.1:p.Gly150=
XM_011533869.2:c.444G>A	XP_011532171.1:p.Gly148=
XM_024453611.1:c.408G>A	XP_024309379.1:p.Gly136=
NM_001354798.2:c.462G>A	NP_001341727.1:p.Gly154=