Canonical Allele Identifier: CA2224365838
Gene: SLC12A3 HGNC NCBI

Linked Data

dbSNP Id: rs2055583369

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56904624_56904629dup , CM000678.2:g.56904624_56904629dup GRCh38
NC_000016.9:g.56938536_56938541dup , CM000678.1:g.56938536_56938541dup GRCh37
NC_000016.8:g.55496037_55496042dup NCBI36
NG_009386.1:g.44418_44423dup
NG_009386.2:g.44418_44423dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2924+162_2924+167dup MANE Select ENSP00000456149.2:n.2924+162_2924+167dup
ENST00000262502.5:c.2921+162_2921+167dup ENSP00000262502.5:n.2921+162_2921+167dup
ENST00000438926.6:c.2951+162_2951+167dup ENSP00000402152.2:n.2951+162_2951+167dup
ENST00000563236.5:c.2924+162_2924+167dup ENSP00000456149.1:n.2924+162_2924+167dup
ENST00000566786.5:c.2948+162_2948+167dup ENSP00000457552.1:n.2948+162_2948+167dup
ENST00000569002.1:n.517_522dup
NM_000339.2:c.2951+162_2951+167dup NP_000330.2:n.2951+162_2951+167dup
NM_001126107.1:c.2948+162_2948+167dup NP_001119579.1:n.2948+162_2948+167dup
NM_001126108.1:c.2924+162_2924+167dup NP_001119580.1:n.2924+162_2924+167dup
XM_005256119.1:c.2921+162_2921+167dup XP_005256176.1:n.2921+162_2921+167dup
XM_005256119.2:c.2921+162_2921+167dup XP_005256176.1:n.2921+162_2921+167dup
NM_000339.3:c.2951+162_2951+167dup NP_000330.3:n.2951+162_2951+167dup
NM_001126107.2:c.2948+162_2948+167dup NP_001119579.2:n.2948+162_2948+167dup
NM_001126108.2:c.2924+162_2924+167dup MANE Select NP_001119580.2:n.2924+162_2924+167dup