Canonical Allele Identifier: CA396002207

Gene: SLC12A3

Linked Data

• MyVariant Identifiers: chr16:g.56938310C>T (hg19) ; chr16:g.56904398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904398C>T , CM000678.2:g.56904398C>T	GRCh38
NC_000016.9:g.56938310C>T , CM000678.1:g.56938310C>T	GRCh37
NC_000016.8:g.55495811C>T	NCBI36
NG_009386.1:g.44192C>T
NG_009386.2:g.44192C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2860C>T MANE Select	ENSP00000456149.2:p.Leu954Phe
ENST00000262502.5:c.2857C>T	ENSP00000262502.5:p.Leu953Phe
ENST00000438926.6:c.2887C>T	ENSP00000402152.2:p.Leu963Phe
ENST00000563236.5:c.2860C>T	ENSP00000456149.1:p.Leu954Phe
ENST00000566786.5:c.2884C>T	ENSP00000457552.1:p.Leu962Phe
ENST00000569002.1:n.291C>T
NM_000339.2:c.2887C>T	NP_000330.2:p.Leu963Phe
NM_001126107.1:c.2884C>T	NP_001119579.1:p.Leu962Phe
NM_001126108.1:c.2860C>T	NP_001119580.1:p.Leu954Phe
XM_005256119.1:c.2857C>T	XP_005256176.1:p.Leu953Phe
XM_005256119.2:c.2857C>T	XP_005256176.1:p.Leu953Phe
NM_000339.3:c.2887C>T	NP_000330.3:p.Leu963Phe
NM_001126107.2:c.2884C>T	NP_001119579.2:p.Leu962Phe
NM_001126108.2:c.2860C>T MANE Select	NP_001119580.2:p.Leu954Phe