Canonical Allele Identifier: CA433164982

Gene: SLC25A38

Linked Data

• ClinVar Variation Id: 1192973
• ClinVar RCV Id: RCV001555205
• dbSNP Id: rs2125582972
• gnomAD v4: 3-39394570-T-C
• MyVariant Identifiers: chr3:g.39436061T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394570T>C , CM000665.2:g.39394570T>C	GRCh38
NC_000003.11:g.39436061T>C , CM000665.1:g.39436061T>C	GRCh37
NC_000003.10:g.39411065T>C	NCBI36
NG_016931.1:g.16247T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.738T>C	ENSP00000495376.1:p.Ile246=
ENST00000643672.1:c.735T>C	ENSP00000494532.1:p.Ile245=
ENST00000645280.1:c.732T>C	ENSP00000496690.1:p.Ile244=
ENST00000648579.1:c.*83T>C	ENSP00000497638.1:n.*83T>C
ENST00000650617.1:c.786T>C MANE Select	ENSP00000497532.1:p.Ile262=
ENST00000273158.8:c.786T>C	ENSP00000273158.3:p.Ile262=
NM_017875.2:c.786T>C	NP_060345.2:p.Ile262=
XM_006713214.1:c.774T>C	XP_006713277.1:p.Ile258=
XM_011533869.1:c.768T>C	XP_011532171.1:p.Ile256=
XM_011533870.1:c.735T>C	XP_011532172.1:p.Ile245=
XM_011533871.1:c.606T>C	XP_011532173.1:p.Ile202=
NM_001354798.1:c.626-1828T>C	NP_001341727.1:n.626-1828T>C
NM_017875.4:c.786T>C MANE Select	NP_060345.2:p.Ile262=
XM_006713214.2:c.774T>C	XP_006713277.1:p.Ile258=
XM_011533869.2:c.768T>C	XP_011532171.1:p.Ile256=
XM_024453611.1:c.732T>C	XP_024309379.1:p.Ile244=
NM_001354798.2:c.626-1828T>C	NP_001341727.1:n.626-1828T>C