Canonical Allele Identifier: CA510754994

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 2652363
• ClinVar RCV Id: RCV003440423 ; RCV003755037
• dbSNP Id: rs1457119433
• gnomAD v3: 20-46056269-G-A
• gnomAD v4: 20-46056269-G-A
• MyVariant Identifiers: chr20:g.44684908G>A (hg19) ; chr20:g.46056269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056269G>A , CM000682.2:g.46056269G>A	GRCh38
NC_000020.10:g.44684908G>A , CM000682.1:g.44684908G>A	GRCh37
NC_000020.9:g.44118315G>A	NCBI36
NG_046341.1:g.39580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2907G>A MANE Select	ENSP00000243964.4:p.Glu969=
ENST00000243964.6:c.2907G>A	ENSP00000243964.3:p.Glu969=
ENST00000454036.6:c.2976G>A	ENSP00000387694.1:p.Glu992=
ENST00000616201.4:c.1298-2387G>A	ENSP00000484585.1:n.1298-2387G>A
ENST00000616202.4:c.613-2212G>A	ENSP00000478369.1:n.613-2212G>A
ENST00000616933.4:c.*2225G>A	ENSP00000477569.1:n.*2225G>A
ENST00000626937.2:c.510-3330G>A	ENSP00000485953.1:n.510-3330G>A
ENST00000628413.1:n.423G>A
NM_001134771.1:c.2976G>A	NP_001128243.1:p.Glu992=
NM_020708.4:c.2907G>A	NP_065759.1:p.Glu969=
XM_017027981.1:c.2976G>A	XP_016883470.1:p.Glu992=
NM_001134771.2:c.2976G>A	NP_001128243.1:p.Glu992=
NM_020708.5:c.2907G>A MANE Select	NP_065759.1:p.Glu969=