Canonical Allele Identifier: CA510657451

Gene: SLC12A5

Linked Data

• dbSNP Id: rs2084696508
• gnomAD v3: 20-46056535-G-A
• gnomAD v4: 20-46056535-G-A
• COSMIC: COSM4901188 ; COSM4901189
• MyVariant Identifiers: chr20:g.44685174G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056535G>A , CM000682.2:g.46056535G>A	GRCh38
NC_000020.10:g.44685174G>A , CM000682.1:g.44685174G>A	GRCh37
NC_000020.9:g.44118581G>A	NCBI36
NG_046341.1:g.39846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3081G>A MANE Select	ENSP00000243964.4:p.Glu1027=
ENST00000243964.6:c.3081G>A	ENSP00000243964.3:p.Glu1027=
ENST00000454036.6:c.3150G>A	ENSP00000387694.1:p.Glu1050=
ENST00000616201.4:c.1298-2121G>A	ENSP00000484585.1:n.1298-2121G>A
ENST00000616202.4:c.613-1946G>A	ENSP00000478369.1:n.613-1946G>A
ENST00000616933.4:c.*2399G>A	ENSP00000477569.1:n.*2399G>A
ENST00000626937.2:c.510-3064G>A	ENSP00000485953.1:n.510-3064G>A
NM_001134771.1:c.3150G>A	NP_001128243.1:p.Glu1050=
NM_020708.4:c.3081G>A	NP_065759.1:p.Glu1027=
XM_017027981.1:c.3150G>A	XP_016883470.1:p.Glu1050=
NM_001134771.2:c.3150G>A	NP_001128243.1:p.Glu1050=
NM_020708.5:c.3081G>A MANE Select	NP_065759.1:p.Glu1027=