Canonical Allele Identifier: CA495612780

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 1124128
• ClinVar RCV Id: RCV001455379
• dbSNP Id: rs2144748465
• MyVariant Identifiers: chr16:g.56928528T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894616T>C , CM000678.2:g.56894616T>C	GRCh38
NC_000016.9:g.56928528T>C , CM000678.1:g.56928528T>C	GRCh37
NC_000016.8:g.55486029T>C	NCBI36
NG_009386.1:g.34410T>C
NG_009386.2:g.34410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2607T>C MANE Select	ENSP00000456149.2:p.Ile869=
ENST00000262502.5:c.2604T>C	ENSP00000262502.5:p.Ile868=
ENST00000438926.6:c.2634T>C	ENSP00000402152.2:p.Ile878=
ENST00000563236.5:c.2607T>C	ENSP00000456149.1:p.Ile869=
ENST00000566786.5:c.2631T>C	ENSP00000457552.1:p.Ile877=
NM_000339.2:c.2634T>C	NP_000330.2:p.Ile878=
NM_001126107.1:c.2631T>C	NP_001119579.1:p.Ile877=
NM_001126108.1:c.2607T>C	NP_001119580.1:p.Ile869=
XM_005256119.1:c.2604T>C	XP_005256176.1:p.Ile868=
XM_005256119.2:c.2604T>C	XP_005256176.1:p.Ile868=
NM_000339.3:c.2634T>C	NP_000330.3:p.Ile878=
NM_001126107.2:c.2631T>C	NP_001119579.2:p.Ile877=
NM_001126108.2:c.2607T>C MANE Select	NP_001119580.2:p.Ile869=