Canonical Allele Identifier: CA2327543

Gene: SLC25A38

Linked Data

• dbSNP Id: rs760488714
• ExAC: 3:39436035 T / C
• gnomAD v2: 3-39436035-T-C
• MyVariant Identifiers: chr3:g.39436035T>C (hg19) ; chr3:g.39394544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394544T>C , CM000665.2:g.39394544T>C	GRCh38
NC_000003.11:g.39436035T>C , CM000665.1:g.39436035T>C	GRCh37
NC_000003.10:g.39411039T>C	NCBI36
NG_016931.1:g.16221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.712T>C	ENSP00000495376.1:p.Trp238Arg
ENST00000643672.1:c.709T>C	ENSP00000494532.1:p.Trp237Arg
ENST00000645280.1:c.706T>C	ENSP00000496690.1:p.Trp236Arg
ENST00000648579.1:c.*57T>C	ENSP00000497638.1:n.*57T>C
ENST00000650617.1:c.760T>C MANE Select	ENSP00000497532.1:p.Trp254Arg
ENST00000273158.8:c.760T>C	ENSP00000273158.3:p.Trp254Arg
NM_017875.2:c.760T>C	NP_060345.2:p.Trp254Arg
XM_006713214.1:c.748T>C	XP_006713277.1:p.Trp250Arg
XM_011533869.1:c.742T>C	XP_011532171.1:p.Trp248Arg
XM_011533870.1:c.709T>C	XP_011532172.1:p.Trp237Arg
XM_011533871.1:c.580T>C	XP_011532173.1:p.Trp194Arg
NM_001354798.1:c.626-1854T>C	NP_001341727.1:n.626-1854T>C
NM_017875.4:c.760T>C MANE Select	NP_060345.2:p.Trp254Arg
XM_006713214.2:c.748T>C	XP_006713277.1:p.Trp250Arg
XM_011533869.2:c.742T>C	XP_011532171.1:p.Trp248Arg
XM_024453611.1:c.706T>C	XP_024309379.1:p.Trp236Arg
NM_001354798.2:c.626-1854T>C	NP_001341727.1:n.626-1854T>C