Canonical Allele Identifier: CA2224365722
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56904388C= , CM000678.2:g.56904388C= GRCh38
NC_000016.9:g.56938300C= , CM000678.1:g.56938300C= GRCh37
NC_000016.8:g.55495801C= NCBI36
NG_009386.1:g.44182C=
NG_009386.2:g.44182C=

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.2857-7C= MANE Select ENSP00000456149.2:n.2857-7C=
ENST00000262502.5:c.2854-7C= ENSP00000262502.5:n.2854-7C=
ENST00000438926.6:c.2884-7C= ENSP00000402152.2:n.2884-7C=
ENST00000563236.5:c.2857-7C= ENSP00000456149.1:n.2857-7C=
ENST00000566786.5:c.2881-7C= ENSP00000457552.1:n.2881-7C=
ENST00000569002.1:n.288-7C=
NM_000339.2:c.2884-7C= NP_000330.2:n.2884-7C=
NM_001126107.1:c.2881-7C= NP_001119579.1:n.2881-7C=
NM_001126108.1:c.2857-7C= NP_001119580.1:n.2857-7C=
XM_005256119.1:c.2854-7C= XP_005256176.1:n.2854-7C=
XM_005256119.2:c.2854-7C= XP_005256176.1:n.2854-7C=
NM_000339.3:c.2884-7C= NP_000330.3:n.2884-7C=
NM_001126107.2:c.2881-7C= NP_001119579.2:n.2881-7C=
NM_001126108.2:c.2857-7C= MANE Select NP_001119580.2:n.2857-7C=