Canonical Allele Identifier: CA395997241

Gene: SLC12A3

Linked Data

• dbSNP Id: rs766549952
• gnomAD v2: 16-56928451-C-G
• gnomAD v4: 16-56894539-C-G
• MyVariant Identifiers: chr16:g.56928451C>G (hg19) ; chr16:g.56894539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894539C>G , CM000678.2:g.56894539C>G	GRCh38
NC_000016.9:g.56928451C>G , CM000678.1:g.56928451C>G	GRCh37
NC_000016.8:g.55485952C>G	NCBI36
NG_009386.1:g.34333C>G
NG_009386.2:g.34333C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2530C>G MANE Select	ENSP00000456149.2:p.Leu844Val
ENST00000262502.5:c.2527C>G	ENSP00000262502.5:p.Leu843Val
ENST00000438926.6:c.2557C>G	ENSP00000402152.2:p.Leu853Val
ENST00000563236.5:c.2530C>G	ENSP00000456149.1:p.Leu844Val
ENST00000566786.5:c.2554C>G	ENSP00000457552.1:p.Leu852Val
NM_000339.2:c.2557C>G	NP_000330.2:p.Leu853Val
NM_001126107.1:c.2554C>G	NP_001119579.1:p.Leu852Val
NM_001126108.1:c.2530C>G	NP_001119580.1:p.Leu844Val
XM_005256119.1:c.2527C>G	XP_005256176.1:p.Leu843Val
XM_005256119.2:c.2527C>G	XP_005256176.1:p.Leu843Val
NM_000339.3:c.2557C>G	NP_000330.3:p.Leu853Val
NM_001126107.2:c.2554C>G	NP_001119579.2:p.Leu852Val
NM_001126108.2:c.2530C>G MANE Select	NP_001119580.2:p.Leu844Val