Canonical Allele Identifier: CA396001234

Gene: SLC12A3

Linked Data

• MyVariant Identifiers: chr16:g.56936335T>A (hg19) ; chr16:g.56902423T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902423T>A , CM000678.2:g.56902423T>A	GRCh38
NC_000016.9:g.56936335T>A , CM000678.1:g.56936335T>A	GRCh37
NC_000016.8:g.55493836T>A	NCBI36
NG_009386.1:g.42217T>A
NG_009386.2:g.42217T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2771T>A MANE Select	ENSP00000456149.2:p.Phe924Tyr
ENST00000262502.5:c.2768T>A	ENSP00000262502.5:p.Phe923Tyr
ENST00000438926.6:c.2798T>A	ENSP00000402152.2:p.Phe933Tyr
ENST00000563236.5:c.2771T>A	ENSP00000456149.1:p.Phe924Tyr
ENST00000566786.5:c.2795T>A	ENSP00000457552.1:p.Phe932Tyr
ENST00000569002.1:n.202T>A
NM_000339.2:c.2798T>A	NP_000330.2:p.Phe933Tyr
NM_001126107.1:c.2795T>A	NP_001119579.1:p.Phe932Tyr
NM_001126108.1:c.2771T>A	NP_001119580.1:p.Phe924Tyr
XM_005256119.1:c.2768T>A	XP_005256176.1:p.Phe923Tyr
XM_005256119.2:c.2768T>A	XP_005256176.1:p.Phe923Tyr
NM_000339.3:c.2798T>A	NP_000330.3:p.Phe933Tyr
NM_001126107.2:c.2795T>A	NP_001119579.2:p.Phe932Tyr
NM_001126108.2:c.2771T>A MANE Select	NP_001119580.2:p.Phe924Tyr