Canonical Allele Identifier: CA8069984

Gene: SLC12A3

Linked Data

• dbSNP Id: rs757627398
• ExAC: 16:56928537 G / A
• gnomAD v2: 16-56928537-G-A
• MyVariant Identifiers: chr16:g.56928537G>A (hg19) ; chr16:g.56894625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894625G>A , CM000678.2:g.56894625G>A	GRCh38
NC_000016.9:g.56928537G>A , CM000678.1:g.56928537G>A	GRCh37
NC_000016.8:g.55486038G>A	NCBI36
NG_009386.1:g.34419G>A
NG_009386.2:g.34419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2616G>A MANE Select	ENSP00000456149.2:p.Met872Ile
ENST00000262502.5:c.2613G>A	ENSP00000262502.5:p.Met871Ile
ENST00000438926.6:c.2643G>A	ENSP00000402152.2:p.Met881Ile
ENST00000563236.5:c.2616G>A	ENSP00000456149.1:p.Met872Ile
ENST00000566786.5:c.2640G>A	ENSP00000457552.1:p.Met880Ile
NM_000339.2:c.2643G>A	NP_000330.2:p.Met881Ile
NM_001126107.1:c.2640G>A	NP_001119579.1:p.Met880Ile
NM_001126108.1:c.2616G>A	NP_001119580.1:p.Met872Ile
XM_005256119.1:c.2613G>A	XP_005256176.1:p.Met871Ile
XM_005256119.2:c.2613G>A	XP_005256176.1:p.Met871Ile
NM_000339.3:c.2643G>A	NP_000330.3:p.Met881Ile
NM_001126107.2:c.2640G>A	NP_001119579.2:p.Met880Ile
NM_001126108.2:c.2616G>A MANE Select	NP_001119580.2:p.Met872Ile