Canonical Allele Identifier: CA2327535

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 2313067
• ClinVar RCV Id: RCV002892376
• dbSNP Id: rs756472175
• ExAC: 3:39435988 C / T
• gnomAD v2: 3-39435988-C-T
• gnomAD v3: 3-39394497-C-T
• gnomAD v4: 3-39394497-C-T
• COSMIC: COSM2987640
• MyVariant Identifiers: chr3:g.39435988C>T (hg19) ; chr3:g.39394497C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394497C>T , CM000665.2:g.39394497C>T	GRCh38
NC_000003.11:g.39435988C>T , CM000665.1:g.39435988C>T	GRCh37
NC_000003.10:g.39410992C>T	NCBI36
NG_016931.1:g.16174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.665C>T	ENSP00000495376.1:p.Ala222Val
ENST00000643672.1:c.662C>T	ENSP00000494532.1:p.Ala221Val
ENST00000645280.1:c.659C>T	ENSP00000496690.1:p.Ala220Val
ENST00000648579.1:c.*10C>T	ENSP00000497638.1:n.*10C>T
ENST00000650617.1:c.713C>T MANE Select	ENSP00000497532.1:p.Ala238Val
ENST00000273158.8:c.713C>T	ENSP00000273158.3:p.Ala238Val
NM_017875.2:c.713C>T	NP_060345.2:p.Ala238Val
XM_006713214.1:c.701C>T	XP_006713277.1:p.Ala234Val
XM_011533869.1:c.695C>T	XP_011532171.1:p.Ala232Val
XM_011533870.1:c.662C>T	XP_011532172.1:p.Ala221Val
XM_011533871.1:c.533C>T	XP_011532173.1:p.Ala178Val
NM_001354798.1:c.626-1901C>T	NP_001341727.1:n.626-1901C>T
NM_017875.4:c.713C>T MANE Select	NP_060345.2:p.Ala238Val
XM_006713214.2:c.701C>T	XP_006713277.1:p.Ala234Val
XM_011533869.2:c.695C>T	XP_011532171.1:p.Ala232Val
XM_024453611.1:c.659C>T	XP_024309379.1:p.Ala220Val
NM_001354798.2:c.626-1901C>T	NP_001341727.1:n.626-1901C>T