Canonical Allele Identifier: CA2327546

Gene: SLC25A38

Linked Data

• dbSNP Id: rs751652986
• ExAC: 3:39436060 T / C
• gnomAD v2: 3-39436060-T-C
• gnomAD v4: 3-39394569-T-C
• MyVariant Identifiers: chr3:g.39436060T>C (hg19) ; chr3:g.39394569T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394569T>C , CM000665.2:g.39394569T>C	GRCh38
NC_000003.11:g.39436060T>C , CM000665.1:g.39436060T>C	GRCh37
NC_000003.10:g.39411064T>C	NCBI36
NG_016931.1:g.16246T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.737T>C	ENSP00000495376.1:p.Ile246Thr
ENST00000643672.1:c.734T>C	ENSP00000494532.1:p.Ile245Thr
ENST00000645280.1:c.731T>C	ENSP00000496690.1:p.Ile244Thr
ENST00000648579.1:c.*82T>C	ENSP00000497638.1:n.*82T>C
ENST00000650617.1:c.785T>C MANE Select	ENSP00000497532.1:p.Ile262Thr
ENST00000273158.8:c.785T>C	ENSP00000273158.3:p.Ile262Thr
NM_017875.2:c.785T>C	NP_060345.2:p.Ile262Thr
XM_006713214.1:c.773T>C	XP_006713277.1:p.Ile258Thr
XM_011533869.1:c.767T>C	XP_011532171.1:p.Ile256Thr
XM_011533870.1:c.734T>C	XP_011532172.1:p.Ile245Thr
XM_011533871.1:c.605T>C	XP_011532173.1:p.Ile202Thr
NM_001354798.1:c.626-1829T>C	NP_001341727.1:n.626-1829T>C
NM_017875.4:c.785T>C MANE Select	NP_060345.2:p.Ile262Thr
XM_006713214.2:c.773T>C	XP_006713277.1:p.Ile258Thr
XM_011533869.2:c.767T>C	XP_011532171.1:p.Ile256Thr
XM_024453611.1:c.731T>C	XP_024309379.1:p.Ile244Thr
NM_001354798.2:c.626-1829T>C	NP_001341727.1:n.626-1829T>C