Canonical Allele Identifier: CA9887764

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1159605
• ClinVar RCV Id: RCV001503411
• dbSNP Id: rs201194560
• ExAC: 20:44685120 C / G
• gnomAD v2: 20-44685120-C-G
• gnomAD v3: 20-46056481-C-G
• gnomAD v4: 20-46056481-C-G
• MyVariant Identifiers: chr20:g.44685120C>G (hg19) ; chr20:g.46056481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056481C>G , CM000682.2:g.46056481C>G	GRCh38
NC_000020.10:g.44685120C>G , CM000682.1:g.44685120C>G	GRCh37
NC_000020.9:g.44118527C>G	NCBI36
NG_046341.1:g.39792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3027C>G MANE Select	ENSP00000243964.4:p.Thr1009=
ENST00000243964.6:c.3027C>G	ENSP00000243964.3:p.Thr1009=
ENST00000454036.6:c.3096C>G	ENSP00000387694.1:p.Thr1032=
ENST00000616201.4:c.1298-2175C>G	ENSP00000484585.1:n.1298-2175C>G
ENST00000616202.4:c.613-2000C>G	ENSP00000478369.1:n.613-2000C>G
ENST00000616933.4:c.*2345C>G	ENSP00000477569.1:n.*2345C>G
ENST00000626937.2:c.510-3118C>G	ENSP00000485953.1:n.510-3118C>G
ENST00000628413.1:n.543C>G
NM_001134771.1:c.3096C>G	NP_001128243.1:p.Thr1032=
NM_020708.4:c.3027C>G	NP_065759.1:p.Thr1009=
XM_017027981.1:c.3096C>G	XP_016883470.1:p.Thr1032=
NM_001134771.2:c.3096C>G	NP_001128243.1:p.Thr1032=
NM_020708.5:c.3027C>G MANE Select	NP_065759.1:p.Thr1009=