Canonical Allele Identifier: CA396001406

Gene: SLC12A3

Linked Data

• MyVariant Identifiers: chr16:g.56936375C>G (hg19) ; chr16:g.56902463C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902463C>G , CM000678.2:g.56902463C>G	GRCh38
NC_000016.9:g.56936375C>G , CM000678.1:g.56936375C>G	GRCh37
NC_000016.8:g.55493876C>G	NCBI36
NG_009386.1:g.42257C>G
NG_009386.2:g.42257C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2811C>G MANE Select	ENSP00000456149.2:p.Cys937Trp
ENST00000262502.5:c.2808C>G	ENSP00000262502.5:p.Cys936Trp
ENST00000438926.6:c.2838C>G	ENSP00000402152.2:p.Cys946Trp
ENST00000563236.5:c.2811C>G	ENSP00000456149.1:p.Cys937Trp
ENST00000566786.5:c.2835C>G	ENSP00000457552.1:p.Cys945Trp
ENST00000569002.1:n.242C>G
NM_000339.2:c.2838C>G	NP_000330.2:p.Cys946Trp
NM_001126107.1:c.2835C>G	NP_001119579.1:p.Cys945Trp
NM_001126108.1:c.2811C>G	NP_001119580.1:p.Cys937Trp
XM_005256119.1:c.2808C>G	XP_005256176.1:p.Cys936Trp
XM_005256119.2:c.2808C>G	XP_005256176.1:p.Cys936Trp
NM_000339.3:c.2838C>G	NP_000330.3:p.Cys946Trp
NM_001126107.2:c.2835C>G	NP_001119579.2:p.Cys945Trp
NM_001126108.2:c.2811C>G MANE Select	NP_001119580.2:p.Cys937Trp