Canonical Allele Identifier: CA352204742

Gene: SLC25A38

Linked Data

• gnomAD v4: 3-39394440-C-T
• MyVariant Identifiers: chr3:g.39435931C>T (hg19) ; chr3:g.39394440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394440C>T , CM000665.2:g.39394440C>T	GRCh38
NC_000003.11:g.39435931C>T , CM000665.1:g.39435931C>T	GRCh37
NC_000003.10:g.39410935C>T	NCBI36
NG_016931.1:g.16117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.608C>T	ENSP00000495376.1:p.Thr203Ile
ENST00000643672.1:c.605C>T	ENSP00000494532.1:p.Thr202Ile
ENST00000645280.1:c.602C>T	ENSP00000496690.1:p.Thr201Ile
ENST00000648579.1:c.722-10C>T	ENSP00000497638.1:n.722-10C>T
ENST00000650617.1:c.656C>T MANE Select	ENSP00000497532.1:p.Thr219Ile
ENST00000273158.8:c.656C>T	ENSP00000273158.3:p.Thr219Ile
NM_017875.2:c.656C>T	NP_060345.2:p.Thr219Ile
XM_006713214.1:c.644C>T	XP_006713277.1:p.Thr215Ile
XM_011533869.1:c.638C>T	XP_011532171.1:p.Thr213Ile
XM_011533870.1:c.605C>T	XP_011532172.1:p.Thr202Ile
XM_011533871.1:c.476C>T	XP_011532173.1:p.Thr159Ile
NM_001354798.1:c.626-1958C>T	NP_001341727.1:n.626-1958C>T
NM_017875.4:c.656C>T MANE Select	NP_060345.2:p.Thr219Ile
XM_006713214.2:c.644C>T	XP_006713277.1:p.Thr215Ile
XM_011533869.2:c.638C>T	XP_011532171.1:p.Thr213Ile
XM_024453611.1:c.602C>T	XP_024309379.1:p.Thr201Ile
NM_001354798.2:c.626-1958C>T	NP_001341727.1:n.626-1958C>T