Canonical Allele Identifier: CA352205370

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436005C>A (hg19) ; chr3:g.39394514C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394514C>A , CM000665.2:g.39394514C>A	GRCh38
NC_000003.11:g.39436005C>A , CM000665.1:g.39436005C>A	GRCh37
NC_000003.10:g.39411009C>A	NCBI36
NG_016931.1:g.16191C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.682C>A	ENSP00000495376.1:p.His228Asn
ENST00000643672.1:c.679C>A	ENSP00000494532.1:p.His227Asn
ENST00000645280.1:c.676C>A	ENSP00000496690.1:p.His226Asn
ENST00000648579.1:c.*27C>A	ENSP00000497638.1:n.*27C>A
ENST00000650617.1:c.730C>A MANE Select	ENSP00000497532.1:p.His244Asn
ENST00000273158.8:c.730C>A	ENSP00000273158.3:p.His244Asn
NM_017875.2:c.730C>A	NP_060345.2:p.His244Asn
XM_006713214.1:c.718C>A	XP_006713277.1:p.His240Asn
XM_011533869.1:c.712C>A	XP_011532171.1:p.His238Asn
XM_011533870.1:c.679C>A	XP_011532172.1:p.His227Asn
XM_011533871.1:c.550C>A	XP_011532173.1:p.His184Asn
NM_001354798.1:c.626-1884C>A	NP_001341727.1:n.626-1884C>A
NM_017875.4:c.730C>A MANE Select	NP_060345.2:p.His244Asn
XM_006713214.2:c.718C>A	XP_006713277.1:p.His240Asn
XM_011533869.2:c.712C>A	XP_011532171.1:p.His238Asn
XM_024453611.1:c.676C>A	XP_024309379.1:p.His226Asn
NM_001354798.2:c.626-1884C>A	NP_001341727.1:n.626-1884C>A