Canonical Allele Identifier: CA2224364833

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902462_56902463delinsGC , CM000678.2:g.56902462_56902463delinsGC	GRCh38
NC_000016.9:g.56936374_56936375delinsGC , CM000678.1:g.56936374_56936375delinsGC	GRCh37
NC_000016.8:g.55493875_55493876delinsGC	NCBI36
NG_009386.1:g.42256_42257delinsGC
NG_009386.2:g.42256_42257delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2810_2811delinsGC MANE Select	ENSP00000456149.2:p.Cys937=
ENST00000262502.5:c.2807_2808delinsGC	ENSP00000262502.5:p.Cys936=
ENST00000438926.6:c.2837_2838delinsGC	ENSP00000402152.2:p.Cys946=
ENST00000563236.5:c.2810_2811delinsGC	ENSP00000456149.1:p.Cys937=
ENST00000566786.5:c.2834_2835delinsGC	ENSP00000457552.1:p.Cys945=
ENST00000569002.1:n.241_242delinsGC
NM_000339.2:c.2837_2838delinsGC	NP_000330.2:p.Cys946=
NM_001126107.1:c.2834_2835delinsGC	NP_001119579.1:p.Cys945=
NM_001126108.1:c.2810_2811delinsGC	NP_001119580.1:p.Cys937=
XM_005256119.1:c.2807_2808delinsGC	XP_005256176.1:p.Cys936=
XM_005256119.2:c.2807_2808delinsGC	XP_005256176.1:p.Cys936=
NM_000339.3:c.2837_2838delinsGC	NP_000330.3:p.Cys946=
NM_001126107.2:c.2834_2835delinsGC	NP_001119579.2:p.Cys945=
NM_001126108.2:c.2810_2811delinsGC MANE Select	NP_001119580.2:p.Cys937=