Canonical Allele Identifier: CA8069796

Gene: SLC12A3

Linked Data

• dbSNP Id: rs747769804
• ExAC: 16:56921898 A / T
• gnomAD v2: 16-56921898-A-T
• MyVariant Identifiers: chr16:g.56921898A>T (hg19) ; chr16:g.56887986A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887986A>T , CM000678.2:g.56887986A>T	GRCh38
NC_000016.9:g.56921898A>T , CM000678.1:g.56921898A>T	GRCh37
NC_000016.8:g.55479399A>T	NCBI36
NG_009386.1:g.27780A>T
NG_009386.2:g.27780A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2240A>T MANE Select	ENSP00000456149.2:p.Gln747Leu
ENST00000262502.5:c.2237A>T	ENSP00000262502.5:p.Gln746Leu
ENST00000438926.6:c.2240A>T	ENSP00000402152.2:p.Gln747Leu
ENST00000563236.5:c.2240A>T	ENSP00000456149.1:p.Gln747Leu
ENST00000566786.5:c.2237A>T	ENSP00000457552.1:p.Gln746Leu
NM_000339.2:c.2240A>T	NP_000330.2:p.Gln747Leu
NM_001126107.1:c.2237A>T	NP_001119579.1:p.Gln746Leu
NM_001126108.1:c.2240A>T	NP_001119580.1:p.Gln747Leu
XM_005256119.1:c.2237A>T	XP_005256176.1:p.Gln746Leu
XM_005256119.2:c.2237A>T	XP_005256176.1:p.Gln746Leu
NM_000339.3:c.2240A>T	NP_000330.3:p.Gln747Leu
NM_001126107.2:c.2237A>T	NP_001119579.2:p.Gln746Leu
NM_001126108.2:c.2240A>T MANE Select	NP_001119580.2:p.Gln747Leu