Canonical Allele Identifier: CA395997319
Gene: SLC12A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736354
ClinVar RCV Id: RCV003559919

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56894554C>T , CM000678.2:g.56894554C>T GRCh38
NC_000016.9:g.56928466C>T , CM000678.1:g.56928466C>T GRCh37
NC_000016.8:g.55485967C>T NCBI36
NG_009386.1:g.34348C>T
NG_009386.2:g.34348C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2545C>T MANE Select ENSP00000456149.2:p.Leu849Phe
ENST00000262502.5:c.2542C>T ENSP00000262502.5:p.Leu848Phe
ENST00000438926.6:c.2572C>T ENSP00000402152.2:p.Leu858Phe
ENST00000563236.5:c.2545C>T ENSP00000456149.1:p.Leu849Phe
ENST00000566786.5:c.2569C>T ENSP00000457552.1:p.Leu857Phe
NM_000339.2:c.2572C>T NP_000330.2:p.Leu858Phe
NM_001126107.1:c.2569C>T NP_001119579.1:p.Leu857Phe
NM_001126108.1:c.2545C>T NP_001119580.1:p.Leu849Phe
XM_005256119.1:c.2542C>T XP_005256176.1:p.Leu848Phe
XM_005256119.2:c.2542C>T XP_005256176.1:p.Leu848Phe
NM_000339.3:c.2572C>T NP_000330.3:p.Leu858Phe
NM_001126107.2:c.2569C>T NP_001119579.2:p.Leu857Phe
NM_001126108.2:c.2545C>T MANE Select NP_001119580.2:p.Leu849Phe