Canonical Allele Identifier: CA433164545

Gene: SLC25A38

Linked Data

• MyVariant Identifiers: chr3:g.39435971A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39394480A>C , CM000665.2:g.39394480A>C	GRCh38
NC_000003.11:g.39435971A>C , CM000665.1:g.39435971A>C	GRCh37
NC_000003.10:g.39410975A>C	NCBI36
NG_016931.1:g.16157A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642683.1:c.648A>C	ENSP00000495376.1:p.Ser216=
ENST00000643672.1:c.645A>C	ENSP00000494532.1:p.Ser215=
ENST00000645280.1:c.642A>C	ENSP00000496690.1:p.Ser214=
ENST00000648579.1:c.752A>C	ENSP00000497638.1:p.His251Pro
ENST00000650617.1:c.696A>C MANE Select	ENSP00000497532.1:p.Ser232=
ENST00000273158.8:c.696A>C	ENSP00000273158.3:p.Ser232=
NM_017875.2:c.696A>C	NP_060345.2:p.Ser232=
XM_006713214.1:c.684A>C	XP_006713277.1:p.Ser228=
XM_011533869.1:c.678A>C	XP_011532171.1:p.Ser226=
XM_011533870.1:c.645A>C	XP_011532172.1:p.Ser215=
XM_011533871.1:c.516A>C	XP_011532173.1:p.Ser172=
NM_001354798.1:c.626-1918A>C	NP_001341727.1:n.626-1918A>C
NM_017875.4:c.696A>C MANE Select	NP_060345.2:p.Ser232=
XM_006713214.2:c.684A>C	XP_006713277.1:p.Ser228=
XM_011533869.2:c.678A>C	XP_011532171.1:p.Ser226=
XM_024453611.1:c.642A>C	XP_024309379.1:p.Ser214=
NM_001354798.2:c.626-1918A>C	NP_001341727.1:n.626-1918A>C