Canonical Allele Identifier: CA395996447

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56893048G>A , CM000678.2:g.56893048G>A	GRCh38
NC_000016.9:g.56926960G>A , CM000678.1:g.56926960G>A	GRCh37
NC_000016.8:g.55484461G>A	NCBI36
NG_009386.1:g.32842G>A
NG_009386.2:g.32842G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001126108.2:c.2515G>A MANE Select	NP_001119580.2:p.Asp839Asn
ENST00000563236.6:c.2515G>A MANE Select	ENSP00000456149.2:p.Asp839Asn
NM_000339.2:c.2542G>A	NP_000330.2:p.Asp848Asn
NM_000339.3:c.2542G>A	NP_000330.3:p.Asp848Asn
NM_001126107.1:c.2539G>A	NP_001119579.1:p.Asp847Asn
NM_001126107.2:c.2539G>A	NP_001119579.2:p.Asp847Asn
NM_001126108.1:c.2515G>A	NP_001119580.1:p.Asp839Asn
ENST00000262502.5:c.2512G>A	ENSP00000262502.5:p.Asp838Asn
ENST00000438926.6:c.2542G>A	ENSP00000402152.2:p.Asp848Asn
ENST00000563236.5:c.2515G>A	ENSP00000456149.1:p.Asp839Asn
ENST00000566786.5:c.2539G>A	ENSP00000457552.1:p.Asp847Asn
XM_005256119.1:c.2512G>A	XP_005256176.1:p.Asp838Asn
XM_005256119.2:c.2512G>A	XP_005256176.1:p.Asp838Asn