Canonical Allele Identifier: CA409207483

Gene: SLC12A5

Linked Data

• dbSNP Id: rs2084691606
• gnomAD v3: 20-46056248-C-A
• gnomAD v4: 20-46056248-C-A
• MyVariant Identifiers: chr20:g.44684887C>A (hg19) ; chr20:g.46056248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056248C>A , CM000682.2:g.46056248C>A	GRCh38
NC_000020.10:g.44684887C>A , CM000682.1:g.44684887C>A	GRCh37
NC_000020.9:g.44118294C>A	NCBI36
NG_046341.1:g.39559C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2886C>A MANE Select	ENSP00000243964.4:p.Asp962Glu
ENST00000243964.6:c.2886C>A	ENSP00000243964.3:p.Asp962Glu
ENST00000454036.6:c.2955C>A	ENSP00000387694.1:p.Asp985Glu
ENST00000616201.4:c.1298-2408C>A	ENSP00000484585.1:n.1298-2408C>A
ENST00000616202.4:c.613-2233C>A	ENSP00000478369.1:n.613-2233C>A
ENST00000616933.4:c.*2204C>A	ENSP00000477569.1:n.*2204C>A
ENST00000626937.2:c.510-3351C>A	ENSP00000485953.1:n.510-3351C>A
ENST00000628413.1:n.402C>A
NM_001134771.1:c.2955C>A	NP_001128243.1:p.Asp985Glu
NM_020708.4:c.2886C>A	NP_065759.1:p.Asp962Glu
XM_017027981.1:c.2955C>A	XP_016883470.1:p.Asp985Glu
NM_001134771.2:c.2955C>A	NP_001128243.1:p.Asp985Glu
NM_020708.5:c.2886C>A MANE Select	NP_065759.1:p.Asp962Glu