Canonical Allele Identifier: CA433164838

Gene: SLC25A38

Linked Data

• dbSNP Id: rs1300526671
• gnomAD v2: 3-39436022-A-G
• gnomAD v4: 3-39394531-A-G
• MyVariant Identifiers: chr3:g.39436022A>G (hg19) ; chr3:g.39394531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394531A>G , CM000665.2:g.39394531A>G	GRCh38
NC_000003.11:g.39436022A>G , CM000665.1:g.39436022A>G	GRCh37
NC_000003.10:g.39411026A>G	NCBI36
NG_016931.1:g.16208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.699A>G	ENSP00000495376.1:p.Pro233=
ENST00000643672.1:c.696A>G	ENSP00000494532.1:p.Pro232=
ENST00000645280.1:c.693A>G	ENSP00000496690.1:p.Pro231=
ENST00000648579.1:c.*44A>G	ENSP00000497638.1:n.*44A>G
ENST00000650617.1:c.747A>G MANE Select	ENSP00000497532.1:p.Pro249=
ENST00000273158.8:c.747A>G	ENSP00000273158.3:p.Pro249=
NM_017875.2:c.747A>G	NP_060345.2:p.Pro249=
XM_006713214.1:c.735A>G	XP_006713277.1:p.Pro245=
XM_011533869.1:c.729A>G	XP_011532171.1:p.Pro243=
XM_011533870.1:c.696A>G	XP_011532172.1:p.Pro232=
XM_011533871.1:c.567A>G	XP_011532173.1:p.Pro189=
NM_001354798.1:c.626-1867A>G	NP_001341727.1:n.626-1867A>G
NM_017875.4:c.747A>G MANE Select	NP_060345.2:p.Pro249=
XM_006713214.2:c.735A>G	XP_006713277.1:p.Pro245=
XM_011533869.2:c.729A>G	XP_011532171.1:p.Pro243=
XM_024453611.1:c.693A>G	XP_024309379.1:p.Pro231=
NM_001354798.2:c.626-1867A>G	NP_001341727.1:n.626-1867A>G