Canonical Allele Identifier: CA352205469

Gene: SLC25A38

Linked Data

• gnomAD v4: 3-39394530-C-G
• MyVariant Identifiers: chr3:g.39436021C>G (hg19) ; chr3:g.39394530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394530C>G , CM000665.2:g.39394530C>G	GRCh38
NC_000003.11:g.39436021C>G , CM000665.1:g.39436021C>G	GRCh37
NC_000003.10:g.39411025C>G	NCBI36
NG_016931.1:g.16207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.698C>G	ENSP00000495376.1:p.Pro233Arg
ENST00000643672.1:c.695C>G	ENSP00000494532.1:p.Pro232Arg
ENST00000645280.1:c.692C>G	ENSP00000496690.1:p.Pro231Arg
ENST00000648579.1:c.*43C>G	ENSP00000497638.1:n.*43C>G
ENST00000650617.1:c.746C>G MANE Select	ENSP00000497532.1:p.Pro249Arg
ENST00000273158.8:c.746C>G	ENSP00000273158.3:p.Pro249Arg
NM_017875.2:c.746C>G	NP_060345.2:p.Pro249Arg
XM_006713214.1:c.734C>G	XP_006713277.1:p.Pro245Arg
XM_011533869.1:c.728C>G	XP_011532171.1:p.Pro243Arg
XM_011533870.1:c.695C>G	XP_011532172.1:p.Pro232Arg
XM_011533871.1:c.566C>G	XP_011532173.1:p.Pro189Arg
NM_001354798.1:c.626-1868C>G	NP_001341727.1:n.626-1868C>G
NM_017875.4:c.746C>G MANE Select	NP_060345.2:p.Pro249Arg
XM_006713214.2:c.734C>G	XP_006713277.1:p.Pro245Arg
XM_011533869.2:c.728C>G	XP_011532171.1:p.Pro243Arg
XM_024453611.1:c.692C>G	XP_024309379.1:p.Pro231Arg
NM_001354798.2:c.626-1868C>G	NP_001341727.1:n.626-1868C>G