Canonical Allele Identifier: CA395997674

Gene: SLC12A3

Linked Data

• MyVariant Identifiers: chr16:g.56928534G>T (hg19) ; chr16:g.56894622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894622G>T , CM000678.2:g.56894622G>T	GRCh38
NC_000016.9:g.56928534G>T , CM000678.1:g.56928534G>T	GRCh37
NC_000016.8:g.55486035G>T	NCBI36
NG_009386.1:g.34416G>T
NG_009386.2:g.34416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2613G>T MANE Select	ENSP00000456149.2:p.Arg871Ser
ENST00000262502.5:c.2610G>T	ENSP00000262502.5:p.Arg870Ser
ENST00000438926.6:c.2640G>T	ENSP00000402152.2:p.Arg880Ser
ENST00000563236.5:c.2613G>T	ENSP00000456149.1:p.Arg871Ser
ENST00000566786.5:c.2637G>T	ENSP00000457552.1:p.Arg879Ser
NM_000339.2:c.2640G>T	NP_000330.2:p.Arg880Ser
NM_001126107.1:c.2637G>T	NP_001119579.1:p.Arg879Ser
NM_001126108.1:c.2613G>T	NP_001119580.1:p.Arg871Ser
XM_005256119.1:c.2610G>T	XP_005256176.1:p.Arg870Ser
XM_005256119.2:c.2610G>T	XP_005256176.1:p.Arg870Ser
NM_000339.3:c.2640G>T	NP_000330.3:p.Arg880Ser
NM_001126107.2:c.2637G>T	NP_001119579.2:p.Arg879Ser
NM_001126108.2:c.2613G>T MANE Select	NP_001119580.2:p.Arg871Ser