Canonical Allele Identifier: CA2327506

Gene: SLC25A38

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39392021G>C , CM000665.2:g.39392021G>C	GRCh38
NC_000003.11:g.39433512G>C , CM000665.1:g.39433512G>C	GRCh37
NC_000003.10:g.39408516G>C	NCBI36
NG_016931.1:g.13698G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017875.4:c.625G>C MANE Select	NP_060345.2:p.Asp209His
ENST00000650617.1:c.625G>C MANE Select	ENSP00000497532.1:p.Asp209His
NM_001354798.1:c.625G>C	NP_001341727.1:p.Gly209Arg
NM_001354798.2:c.625G>C	NP_001341727.1:p.Gly209Arg
NM_017875.2:c.625G>C	NP_060345.2:p.Asp209His
ENST00000273158.8:c.625G>C	ENSP00000273158.3:p.Asp209His
ENST00000642683.1:c.577G>C	ENSP00000495376.1:p.Asp193His
ENST00000643672.1:c.574G>C	ENSP00000494532.1:p.Asp192His
ENST00000645280.1:c.571G>C	ENSP00000496690.1:p.Asp191His
ENST00000645630.1:c.445G>C	ENSP00000493714.1:p.Asp149His
ENST00000648579.1:c.625G>C	ENSP00000497638.1:p.Val209Leu
XM_006713214.1:c.613G>C	XP_006713277.1:p.Asp205His
XM_006713214.2:c.613G>C	XP_006713277.1:p.Asp205His
XM_011533869.1:c.607G>C	XP_011532171.1:p.Asp203His
XM_011533869.2:c.607G>C	XP_011532171.1:p.Asp203His
XM_011533870.1:c.574G>C	XP_011532172.1:p.Asp192His
XM_011533871.1:c.445G>C	XP_011532173.1:p.Asp149His
XM_024453611.1:c.571G>C	XP_024309379.1:p.Asp191His