Canonical Allele Identifier: CA315644465

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 658856
• ClinVar RCV Id: RCV000815758
• dbSNP Id: rs776262547
• gnomAD v2: 20-44684894-G-C
• gnomAD v3: 20-46056255-G-C
• gnomAD v4: 20-46056255-G-C
• MyVariant Identifiers: chr20:g.44684894G>C (hg19) ; chr20:g.46056255G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056255G>C , CM000682.2:g.46056255G>C	GRCh38
NC_000020.10:g.44684894G>C , CM000682.1:g.44684894G>C	GRCh37
NC_000020.9:g.44118301G>C	NCBI36
NG_046341.1:g.39566G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2893G>C MANE Select	ENSP00000243964.4:p.Glu965Gln
ENST00000243964.6:c.2893G>C	ENSP00000243964.3:p.Glu965Gln
ENST00000454036.6:c.2962G>C	ENSP00000387694.1:p.Glu988Gln
ENST00000616201.4:c.1298-2401G>C	ENSP00000484585.1:n.1298-2401G>C
ENST00000616202.4:c.613-2226G>C	ENSP00000478369.1:n.613-2226G>C
ENST00000616933.4:c.*2211G>C	ENSP00000477569.1:n.*2211G>C
ENST00000626937.2:c.510-3344G>C	ENSP00000485953.1:n.510-3344G>C
ENST00000628413.1:n.409G>C
NM_001134771.1:c.2962G>C	NP_001128243.1:p.Glu988Gln
NM_020708.4:c.2893G>C	NP_065759.1:p.Glu965Gln
XM_017027981.1:c.2962G>C	XP_016883470.1:p.Glu988Gln
NM_001134771.2:c.2962G>C	NP_001128243.1:p.Glu988Gln
NM_020708.5:c.2893G>C MANE Select	NP_065759.1:p.Glu965Gln