Canonical Allele Identifier: CA352205066

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435969T>G (hg19) ; chr3:g.39394478T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394478T>G , CM000665.2:g.39394478T>G	GRCh38
NC_000003.11:g.39435969T>G , CM000665.1:g.39435969T>G	GRCh37
NC_000003.10:g.39410973T>G	NCBI36
NG_016931.1:g.16155T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.646T>G	ENSP00000495376.1:p.Ser216Ala
ENST00000643672.1:c.643T>G	ENSP00000494532.1:p.Ser215Ala
ENST00000645280.1:c.640T>G	ENSP00000496690.1:p.Ser214Ala
ENST00000648579.1:c.750T>G	ENSP00000497638.1:p.Pro250=
ENST00000650617.1:c.694T>G MANE Select	ENSP00000497532.1:p.Ser232Ala
ENST00000273158.8:c.694T>G	ENSP00000273158.3:p.Ser232Ala
NM_017875.2:c.694T>G	NP_060345.2:p.Ser232Ala
XM_006713214.1:c.682T>G	XP_006713277.1:p.Ser228Ala
XM_011533869.1:c.676T>G	XP_011532171.1:p.Ser226Ala
XM_011533870.1:c.643T>G	XP_011532172.1:p.Ser215Ala
XM_011533871.1:c.514T>G	XP_011532173.1:p.Ser172Ala
NM_001354798.1:c.626-1920T>G	NP_001341727.1:n.626-1920T>G
NM_017875.4:c.694T>G MANE Select	NP_060345.2:p.Ser232Ala
XM_006713214.2:c.682T>G	XP_006713277.1:p.Ser228Ala
XM_011533869.2:c.676T>G	XP_011532171.1:p.Ser226Ala
XM_024453611.1:c.640T>G	XP_024309379.1:p.Ser214Ala
NM_001354798.2:c.626-1920T>G	NP_001341727.1:n.626-1920T>G