Canonical Allele Identifier: CA9887769

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 2146560
• ClinVar RCV Id: RCV003067197
• dbSNP Id: rs200632849
• ExAC: 20:44685144 G / A
• gnomAD v2: 20-44685144-G-A
• gnomAD v3: 20-46056505-G-A
• gnomAD v4: 20-46056505-G-A
• MyVariant Identifiers: chr20:g.44685144G>A (hg19) ; chr20:g.46056505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056505G>A , CM000682.2:g.46056505G>A	GRCh38
NC_000020.10:g.44685144G>A , CM000682.1:g.44685144G>A	GRCh37
NC_000020.9:g.44118551G>A	NCBI36
NG_046341.1:g.39816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3051G>A MANE Select	ENSP00000243964.4:p.Lys1017=
ENST00000243964.6:c.3051G>A	ENSP00000243964.3:p.Lys1017=
ENST00000454036.6:c.3120G>A	ENSP00000387694.1:p.Lys1040=
ENST00000616201.4:c.1298-2151G>A	ENSP00000484585.1:n.1298-2151G>A
ENST00000616202.4:c.613-1976G>A	ENSP00000478369.1:n.613-1976G>A
ENST00000616933.4:c.*2369G>A	ENSP00000477569.1:n.*2369G>A
ENST00000626937.2:c.510-3094G>A	ENSP00000485953.1:n.510-3094G>A
ENST00000628413.1:n.567G>A
NM_001134771.1:c.3120G>A	NP_001128243.1:p.Lys1040=
NM_020708.4:c.3051G>A	NP_065759.1:p.Lys1017=
XM_017027981.1:c.3120G>A	XP_016883470.1:p.Lys1040=
NM_001134771.2:c.3120G>A	NP_001128243.1:p.Lys1040=
NM_020708.5:c.3051G>A MANE Select	NP_065759.1:p.Lys1017=