Canonical Allele Identifier: CA352205078

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435970C>T (hg19) ; chr3:g.39394479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394479C>T , CM000665.2:g.39394479C>T	GRCh38
NC_000003.11:g.39435970C>T , CM000665.1:g.39435970C>T	GRCh37
NC_000003.10:g.39410974C>T	NCBI36
NG_016931.1:g.16156C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.647C>T	ENSP00000495376.1:p.Ser216Leu
ENST00000643672.1:c.644C>T	ENSP00000494532.1:p.Ser215Leu
ENST00000645280.1:c.641C>T	ENSP00000496690.1:p.Ser214Leu
ENST00000648579.1:c.751C>T	ENSP00000497638.1:p.His251Tyr
ENST00000650617.1:c.695C>T MANE Select	ENSP00000497532.1:p.Ser232Leu
ENST00000273158.8:c.695C>T	ENSP00000273158.3:p.Ser232Leu
NM_017875.2:c.695C>T	NP_060345.2:p.Ser232Leu
XM_006713214.1:c.683C>T	XP_006713277.1:p.Ser228Leu
XM_011533869.1:c.677C>T	XP_011532171.1:p.Ser226Leu
XM_011533870.1:c.644C>T	XP_011532172.1:p.Ser215Leu
XM_011533871.1:c.515C>T	XP_011532173.1:p.Ser172Leu
NM_001354798.1:c.626-1919C>T	NP_001341727.1:n.626-1919C>T
NM_017875.4:c.695C>T MANE Select	NP_060345.2:p.Ser232Leu
XM_006713214.2:c.683C>T	XP_006713277.1:p.Ser228Leu
XM_011533869.2:c.677C>T	XP_011532171.1:p.Ser226Leu
XM_024453611.1:c.641C>T	XP_024309379.1:p.Ser214Leu
NM_001354798.2:c.626-1919C>T	NP_001341727.1:n.626-1919C>T