Canonical Allele Identifier: CA409207480

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 653443
• ClinVar RCV Id: RCV000809219
• dbSNP Id: rs1284519025
• gnomAD v3: 20-46056247-A-G
• gnomAD v4: 20-46056247-A-G
• MyVariant Identifiers: chr20:g.44684886A>G (hg19) ; chr20:g.46056247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056247A>G , CM000682.2:g.46056247A>G	GRCh38
NC_000020.10:g.44684886A>G , CM000682.1:g.44684886A>G	GRCh37
NC_000020.9:g.44118293A>G	NCBI36
NG_046341.1:g.39558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2885A>G MANE Select	ENSP00000243964.4:p.Asp962Gly
ENST00000243964.6:c.2885A>G	ENSP00000243964.3:p.Asp962Gly
ENST00000454036.6:c.2954A>G	ENSP00000387694.1:p.Asp985Gly
ENST00000616201.4:c.1298-2409A>G	ENSP00000484585.1:n.1298-2409A>G
ENST00000616202.4:c.613-2234A>G	ENSP00000478369.1:n.613-2234A>G
ENST00000616933.4:c.*2203A>G	ENSP00000477569.1:n.*2203A>G
ENST00000626937.2:c.510-3352A>G	ENSP00000485953.1:n.510-3352A>G
ENST00000628413.1:n.401A>G
NM_001134771.1:c.2954A>G	NP_001128243.1:p.Asp985Gly
NM_020708.4:c.2885A>G	NP_065759.1:p.Asp962Gly
XM_017027981.1:c.2954A>G	XP_016883470.1:p.Asp985Gly
NM_001134771.2:c.2954A>G	NP_001128243.1:p.Asp985Gly
NM_020708.5:c.2885A>G MANE Select	NP_065759.1:p.Asp962Gly