Canonical Allele Identifier: CA8070046

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902367C>A , CM000678.2:g.56902367C>A	GRCh38
NC_000016.9:g.56936279C>A , CM000678.1:g.56936279C>A	GRCh37
NC_000016.8:g.55493780C>A	NCBI36
NG_009386.1:g.42161C>A
NG_009386.2:g.42161C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001126108.2:c.2721-6C>A MANE Select	NP_001119580.2:n.2721-6C>A
ENST00000563236.6:c.2721-6C>A MANE Select	ENSP00000456149.2:n.2721-6C>A
NM_000339.2:c.2748-6C>A	NP_000330.2:n.2748-6C>A
NM_000339.3:c.2748-6C>A	NP_000330.3:n.2748-6C>A
NM_001126107.1:c.2745-6C>A	NP_001119579.1:n.2745-6C>A
NM_001126107.2:c.2745-6C>A	NP_001119579.2:n.2745-6C>A
NM_001126108.1:c.2721-6C>A	NP_001119580.1:n.2721-6C>A
ENST00000262502.5:c.2718-6C>A	ENSP00000262502.5:n.2718-6C>A
ENST00000438926.6:c.2748-6C>A	ENSP00000402152.2:n.2748-6C>A
ENST00000563236.5:c.2721-6C>A	ENSP00000456149.1:n.2721-6C>A
ENST00000566786.5:c.2745-6C>A	ENSP00000457552.1:n.2745-6C>A
ENST00000569002.1:n.146C>A
XM_005256119.1:c.2718-6C>A	XP_005256176.1:n.2718-6C>A
XM_005256119.2:c.2718-6C>A	XP_005256176.1:n.2718-6C>A