Canonical Allele Identifier: CA395997319

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2736354
• ClinVar RCV Id: RCV003559919
• gnomAD v4: 16-56894554-C-T
• MyVariant Identifiers: chr16:g.56928466C>T (hg19) ; chr16:g.56894554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894554C>T , CM000678.2:g.56894554C>T	GRCh38
NC_000016.9:g.56928466C>T , CM000678.1:g.56928466C>T	GRCh37
NC_000016.8:g.55485967C>T	NCBI36
NG_009386.1:g.34348C>T
NG_009386.2:g.34348C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2545C>T MANE Select	ENSP00000456149.2:p.Leu849Phe
ENST00000262502.5:c.2542C>T	ENSP00000262502.5:p.Leu848Phe
ENST00000438926.6:c.2572C>T	ENSP00000402152.2:p.Leu858Phe
ENST00000563236.5:c.2545C>T	ENSP00000456149.1:p.Leu849Phe
ENST00000566786.5:c.2569C>T	ENSP00000457552.1:p.Leu857Phe
NM_000339.2:c.2572C>T	NP_000330.2:p.Leu858Phe
NM_001126107.1:c.2569C>T	NP_001119579.1:p.Leu857Phe
NM_001126108.1:c.2545C>T	NP_001119580.1:p.Leu849Phe
XM_005256119.1:c.2542C>T	XP_005256176.1:p.Leu848Phe
XM_005256119.2:c.2542C>T	XP_005256176.1:p.Leu848Phe
NM_000339.3:c.2572C>T	NP_000330.3:p.Leu858Phe
NM_001126107.2:c.2569C>T	NP_001119579.2:p.Leu857Phe
NM_001126108.2:c.2545C>T MANE Select	NP_001119580.2:p.Leu849Phe