Canonical Allele Identifier: CA495612761
Gene: SLC12A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.56928498C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56894586C>T , CM000678.2:g.56894586C>T GRCh38
NC_000016.9:g.56928498C>T , CM000678.1:g.56928498C>T GRCh37
NC_000016.8:g.55485999C>T NCBI36
NG_009386.1:g.34380C>T
NG_009386.2:g.34380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2577C>T MANE Select ENSP00000456149.2:p.Cys859=
ENST00000262502.5:c.2574C>T ENSP00000262502.5:p.Cys858=
ENST00000438926.6:c.2604C>T ENSP00000402152.2:p.Cys868=
ENST00000563236.5:c.2577C>T ENSP00000456149.1:p.Cys859=
ENST00000566786.5:c.2601C>T ENSP00000457552.1:p.Cys867=
NM_000339.2:c.2604C>T NP_000330.2:p.Cys868=
NM_001126107.1:c.2601C>T NP_001119579.1:p.Cys867=
NM_001126108.1:c.2577C>T NP_001119580.1:p.Cys859=
XM_005256119.1:c.2574C>T XP_005256176.1:p.Cys858=
XM_005256119.2:c.2574C>T XP_005256176.1:p.Cys858=
NM_000339.3:c.2604C>T NP_000330.3:p.Cys868=
NM_001126107.2:c.2601C>T NP_001119579.2:p.Cys867=
NM_001126108.2:c.2577C>T MANE Select NP_001119580.2:p.Cys859=