Canonical Allele Identifier: CA2327524

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 2189403
• ClinVar RCV Id: RCV002607331
• dbSNP Id: rs145760389
• ExAC: 3:39435908 G / A
• gnomAD v2: 3-39435908-G-A
• gnomAD v3: 3-39394417-G-A
• gnomAD v4: 3-39394417-G-A
• MyVariant Identifiers: chr3:g.39435908G>A (hg19) ; chr3:g.39394417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394417G>A , CM000665.2:g.39394417G>A	GRCh38
NC_000003.11:g.39435908G>A , CM000665.1:g.39435908G>A	GRCh37
NC_000003.10:g.39410912G>A	NCBI36
NG_016931.1:g.16094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.585G>A	ENSP00000495376.1:p.Val195=
ENST00000643672.1:c.582G>A	ENSP00000494532.1:p.Val194=
ENST00000645280.1:c.579G>A	ENSP00000496690.1:p.Val193=
ENST00000645630.1:c.453G>A	ENSP00000493714.1:p.Val151=
ENST00000648579.1:c.722-33G>A	ENSP00000497638.1:n.722-33G>A
ENST00000650617.1:c.633G>A MANE Select	ENSP00000497532.1:p.Val211=
ENST00000273158.8:c.633G>A	ENSP00000273158.3:p.Val211=
NM_017875.2:c.633G>A	NP_060345.2:p.Val211=
XM_006713214.1:c.621G>A	XP_006713277.1:p.Val207=
XM_011533869.1:c.615G>A	XP_011532171.1:p.Val205=
XM_011533870.1:c.582G>A	XP_011532172.1:p.Val194=
XM_011533871.1:c.453G>A	XP_011532173.1:p.Val151=
NM_001354798.1:c.626-1981G>A	NP_001341727.1:n.626-1981G>A
NM_017875.4:c.633G>A MANE Select	NP_060345.2:p.Val211=
XM_006713214.2:c.621G>A	XP_006713277.1:p.Val207=
XM_011533869.2:c.615G>A	XP_011532171.1:p.Val205=
XM_024453611.1:c.579G>A	XP_024309379.1:p.Val193=
NM_001354798.2:c.626-1981G>A	NP_001341727.1:n.626-1981G>A