Canonical Allele Identifier: CA9887772

Gene: SLC12A5

Linked Data

• dbSNP Id: rs773934299
• ExAC: 20:44685159 T / A
• gnomAD v2: 20-44685159-T-A
• gnomAD v3: 20-46056520-T-A
• gnomAD v4: 20-46056520-T-A
• MyVariant Identifiers: chr20:g.44685159T>A (hg19) ; chr20:g.46056520T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056520T>A , CM000682.2:g.46056520T>A	GRCh38
NC_000020.10:g.44685159T>A , CM000682.1:g.44685159T>A	GRCh37
NC_000020.9:g.44118566T>A	NCBI36
NG_046341.1:g.39831T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3066T>A MANE Select	ENSP00000243964.4:p.Ser1022Arg
ENST00000243964.6:c.3066T>A	ENSP00000243964.3:p.Ser1022Arg
ENST00000454036.6:c.3135T>A	ENSP00000387694.1:p.Ser1045Arg
ENST00000616201.4:c.1298-2136T>A	ENSP00000484585.1:n.1298-2136T>A
ENST00000616202.4:c.613-1961T>A	ENSP00000478369.1:n.613-1961T>A
ENST00000616933.4:c.*2384T>A	ENSP00000477569.1:n.*2384T>A
ENST00000626937.2:c.510-3079T>A	ENSP00000485953.1:n.510-3079T>A
NM_001134771.1:c.3135T>A	NP_001128243.1:p.Ser1045Arg
NM_020708.4:c.3066T>A	NP_065759.1:p.Ser1022Arg
XM_017027981.1:c.3135T>A	XP_016883470.1:p.Ser1045Arg
NM_001134771.2:c.3135T>A	NP_001128243.1:p.Ser1045Arg
NM_020708.5:c.3066T>A MANE Select	NP_065759.1:p.Ser1022Arg