Canonical Allele Identifier: CA495613568
Gene: SLC12A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.56938339G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56904427G>C , CM000678.2:g.56904427G>C GRCh38
NC_000016.9:g.56938339G>C , CM000678.1:g.56938339G>C GRCh37
NC_000016.8:g.55495840G>C NCBI36
NG_009386.1:g.44221G>C
NG_009386.2:g.44221G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2889G>C MANE Select ENSP00000456149.2:p.Val963=
ENST00000262502.5:c.2886G>C ENSP00000262502.5:p.Val962=
ENST00000438926.6:c.2916G>C ENSP00000402152.2:p.Val972=
ENST00000563236.5:c.2889G>C ENSP00000456149.1:p.Val963=
ENST00000566786.5:c.2913G>C ENSP00000457552.1:p.Val971=
ENST00000569002.1:n.320G>C
NM_000339.2:c.2916G>C NP_000330.2:p.Val972=
NM_001126107.1:c.2913G>C NP_001119579.1:p.Val971=
NM_001126108.1:c.2889G>C NP_001119580.1:p.Val963=
XM_005256119.1:c.2886G>C XP_005256176.1:p.Val962=
XM_005256119.2:c.2886G>C XP_005256176.1:p.Val962=
NM_000339.3:c.2916G>C NP_000330.3:p.Val972=
NM_001126107.2:c.2913G>C NP_001119579.2:p.Val971=
NM_001126108.2:c.2889G>C MANE Select NP_001119580.2:p.Val963=