Canonical Allele Identifier: CA2117146

Gene: SLC23A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219162067A>G , CM000664.2:g.219162067A>G	GRCh38
NC_000002.11:g.220026789A>G , CM000664.1:g.220026789A>G	GRCh37
NC_000002.10:g.219735033A>G	NCBI36
NG_007880.1:g.3799T>C , LRG_90:g.3799T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001144889.2:c.1675T>C MANE Select	NP_001138361.1:p.Cys559Arg
ENST00000409878.8:c.1675T>C MANE Select	ENSP00000386473.4:p.Cys559Arg
NM_001144889.1:c.1675T>C	NP_001138361.1:p.Cys559Arg
NM_001144890.1:c.1699T>C	NP_001138362.1:p.Cys567Arg
NM_001144890.2:c.1699T>C	NP_001138362.1:p.Cys567Arg
NM_144712.4:c.1324T>C	NP_653313.3:p.Cys442Arg
NM_144712.5:c.1324T>C	NP_653313.3:p.Cys442Arg
ENST00000295738.11:c.1324T>C	ENSP00000295738.7:p.Cys442Arg
ENST00000318673.6:c.*1122+38T>C	ENSP00000320919.3:n.*1122+38T>C
ENST00000409878.7:c.1675T>C	ENSP00000386473.3:p.Cys559Arg
ENST00000455516.6:c.1699T>C	ENSP00000406546.2:p.Cys567Arg
ENST00000498327.5:n.2188+38T>C