Canonical Allele Identifier: CA395997493

Gene: SLC12A3

Linked Data

• dbSNP Id: rs2055436825
• gnomAD v3: 16-56894585-G-C
• gnomAD v4: 16-56894585-G-C
• MyVariant Identifiers: chr16:g.56928497G>C (hg19) ; chr16:g.56894585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894585G>C , CM000678.2:g.56894585G>C	GRCh38
NC_000016.9:g.56928497G>C , CM000678.1:g.56928497G>C	GRCh37
NC_000016.8:g.55485998G>C	NCBI36
NG_009386.1:g.34379G>C
NG_009386.2:g.34379G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2576G>C MANE Select	ENSP00000456149.2:p.Cys859Ser
ENST00000262502.5:c.2573G>C	ENSP00000262502.5:p.Cys858Ser
ENST00000438926.6:c.2603G>C	ENSP00000402152.2:p.Cys868Ser
ENST00000563236.5:c.2576G>C	ENSP00000456149.1:p.Cys859Ser
ENST00000566786.5:c.2600G>C	ENSP00000457552.1:p.Cys867Ser
NM_000339.2:c.2603G>C	NP_000330.2:p.Cys868Ser
NM_001126107.1:c.2600G>C	NP_001119579.1:p.Cys867Ser
NM_001126108.1:c.2576G>C	NP_001119580.1:p.Cys859Ser
XM_005256119.1:c.2573G>C	XP_005256176.1:p.Cys858Ser
XM_005256119.2:c.2573G>C	XP_005256176.1:p.Cys858Ser
NM_000339.3:c.2603G>C	NP_000330.3:p.Cys868Ser
NM_001126107.2:c.2600G>C	NP_001119579.2:p.Cys867Ser
NM_001126108.2:c.2576G>C MANE Select	NP_001119580.2:p.Cys859Ser