Canonical Allele Identifier: CA8070138

Gene: SLC12A3

Linked Data

• dbSNP Id: rs754364186
• ExAC: 16:56938347 A / T
• gnomAD v2: 16-56938347-A-T
• MyVariant Identifiers: chr16:g.56938347A>T (hg19) ; chr16:g.56904435A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904435A>T , CM000678.2:g.56904435A>T	GRCh38
NC_000016.9:g.56938347A>T , CM000678.1:g.56938347A>T	GRCh37
NC_000016.8:g.55495848A>T	NCBI36
NG_009386.1:g.44229A>T
NG_009386.2:g.44229A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2897A>T MANE Select	ENSP00000456149.2:p.Tyr966Phe
ENST00000262502.5:c.2894A>T	ENSP00000262502.5:p.Tyr965Phe
ENST00000438926.6:c.2924A>T	ENSP00000402152.2:p.Tyr975Phe
ENST00000563236.5:c.2897A>T	ENSP00000456149.1:p.Tyr966Phe
ENST00000566786.5:c.2921A>T	ENSP00000457552.1:p.Tyr974Phe
ENST00000569002.1:n.328A>T
NM_000339.2:c.2924A>T	NP_000330.2:p.Tyr975Phe
NM_001126107.1:c.2921A>T	NP_001119579.1:p.Tyr974Phe
NM_001126108.1:c.2897A>T	NP_001119580.1:p.Tyr966Phe
XM_005256119.1:c.2894A>T	XP_005256176.1:p.Tyr965Phe
XM_005256119.2:c.2894A>T	XP_005256176.1:p.Tyr965Phe
NM_000339.3:c.2924A>T	NP_000330.3:p.Tyr975Phe
NM_001126107.2:c.2921A>T	NP_001119579.2:p.Tyr974Phe
NM_001126108.2:c.2897A>T MANE Select	NP_001119580.2:p.Tyr966Phe