Canonical Allele Identifier: CA433164849

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39436025G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394534G>C , CM000665.2:g.39394534G>C	GRCh38
NC_000003.11:g.39436025G>C , CM000665.1:g.39436025G>C	GRCh37
NC_000003.10:g.39411029G>C	NCBI36
NG_016931.1:g.16211G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642683.1:c.702G>C	ENSP00000495376.1:p.Leu234=
ENST00000643672.1:c.699G>C	ENSP00000494532.1:p.Leu233=
ENST00000645280.1:c.696G>C	ENSP00000496690.1:p.Leu232=
ENST00000648579.1:c.*47G>C	ENSP00000497638.1:n.*47G>C
ENST00000650617.1:c.750G>C MANE Select	ENSP00000497532.1:p.Leu250=
ENST00000273158.8:c.750G>C	ENSP00000273158.3:p.Leu250=
NM_017875.2:c.750G>C	NP_060345.2:p.Leu250=
XM_006713214.1:c.738G>C	XP_006713277.1:p.Leu246=
XM_011533869.1:c.732G>C	XP_011532171.1:p.Leu244=
XM_011533870.1:c.699G>C	XP_011532172.1:p.Leu233=
XM_011533871.1:c.570G>C	XP_011532173.1:p.Leu190=
NM_001354798.1:c.626-1864G>C	NP_001341727.1:n.626-1864G>C
NM_017875.4:c.750G>C MANE Select	NP_060345.2:p.Leu250=
XM_006713214.2:c.738G>C	XP_006713277.1:p.Leu246=
XM_011533869.2:c.732G>C	XP_011532171.1:p.Leu244=
XM_024453611.1:c.696G>C	XP_024309379.1:p.Leu232=
NM_001354798.2:c.626-1864G>C	NP_001341727.1:n.626-1864G>C