Canonical Allele Identifier: CA352205124

Gene: SLC25A38

Linked Data

• gnomAD v4: 3-39394487-A-G
• MyVariant Identifiers: chr3:g.39435978A>G (hg19) ; chr3:g.39394487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394487A>G , CM000665.2:g.39394487A>G	GRCh38
NC_000003.11:g.39435978A>G , CM000665.1:g.39435978A>G	GRCh37
NC_000003.10:g.39410982A>G	NCBI36
NG_016931.1:g.16164A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.655A>G	ENSP00000495376.1:p.Thr219Ala
ENST00000643672.1:c.652A>G	ENSP00000494532.1:p.Thr218Ala
ENST00000645280.1:c.649A>G	ENSP00000496690.1:p.Thr217Ala
ENST00000648579.1:c.759A>G	ENSP00000497638.1:p.Ter253=
ENST00000650617.1:c.703A>G MANE Select	ENSP00000497532.1:p.Thr235Ala
ENST00000273158.8:c.703A>G	ENSP00000273158.3:p.Thr235Ala
NM_017875.2:c.703A>G	NP_060345.2:p.Thr235Ala
XM_006713214.1:c.691A>G	XP_006713277.1:p.Thr231Ala
XM_011533869.1:c.685A>G	XP_011532171.1:p.Thr229Ala
XM_011533870.1:c.652A>G	XP_011532172.1:p.Thr218Ala
XM_011533871.1:c.523A>G	XP_011532173.1:p.Thr175Ala
NM_001354798.1:c.626-1911A>G	NP_001341727.1:n.626-1911A>G
NM_017875.4:c.703A>G MANE Select	NP_060345.2:p.Thr235Ala
XM_006713214.2:c.691A>G	XP_006713277.1:p.Thr231Ala
XM_011533869.2:c.685A>G	XP_011532171.1:p.Thr229Ala
XM_024453611.1:c.649A>G	XP_024309379.1:p.Thr217Ala
NM_001354798.2:c.626-1911A>G	NP_001341727.1:n.626-1911A>G