Canonical Allele Identifier: CA352205589

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436034A>C (hg19) ; chr3:g.39394543A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394543A>C , CM000665.2:g.39394543A>C	GRCh38
NC_000003.11:g.39436034A>C , CM000665.1:g.39436034A>C	GRCh37
NC_000003.10:g.39411038A>C	NCBI36
NG_016931.1:g.16220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.711A>C	ENSP00000495376.1:p.Gln237His
ENST00000643672.1:c.708A>C	ENSP00000494532.1:p.Gln236His
ENST00000645280.1:c.705A>C	ENSP00000496690.1:p.Gln235His
ENST00000648579.1:c.*56A>C	ENSP00000497638.1:n.*56A>C
ENST00000650617.1:c.759A>C MANE Select	ENSP00000497532.1:p.Gln253His
ENST00000273158.8:c.759A>C	ENSP00000273158.3:p.Gln253His
NM_017875.2:c.759A>C	NP_060345.2:p.Gln253His
XM_006713214.1:c.747A>C	XP_006713277.1:p.Gln249His
XM_011533869.1:c.741A>C	XP_011532171.1:p.Gln247His
XM_011533870.1:c.708A>C	XP_011532172.1:p.Gln236His
XM_011533871.1:c.579A>C	XP_011532173.1:p.Gln193His
NM_001354798.1:c.626-1855A>C	NP_001341727.1:n.626-1855A>C
NM_017875.4:c.759A>C MANE Select	NP_060345.2:p.Gln253His
XM_006713214.2:c.747A>C	XP_006713277.1:p.Gln249His
XM_011533869.2:c.741A>C	XP_011532171.1:p.Gln247His
XM_024453611.1:c.705A>C	XP_024309379.1:p.Gln235His
NM_001354798.2:c.626-1855A>C	NP_001341727.1:n.626-1855A>C