Canonical Allele Identifier: CA392313736

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 591245
• ClinVar RCV Id: RCV000722423
• dbSNP Id: rs1566841776
• MyVariant Identifiers: chr15:g.48543968G>T (hg19) ; chr15:g.48251771G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48251771G>T , CM000677.2:g.48251771G>T	GRCh38
NC_000015.9:g.48543968G>T , CM000677.1:g.48543968G>T	GRCh37
NC_000015.8:g.46331260G>T	NCBI36
NG_021301.1:g.50471G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1942+1G>T	ENSP00000508901.1:n.1942+1G>T
ENST00000380993.8:c.1942+1G>T MANE Select	ENSP00000370381.3:n.1942+1G>T
ENST00000646012.1:c.2080+1G>T	ENSP00000495813.1:n.2080+1G>T
ENST00000647232.1:c.1942+1G>T	ENSP00000493875.1:n.1942+1G>T
ENST00000647546.1:c.1942+1G>T	ENSP00000495332.1:n.1942+1G>T
ENST00000380993.7:c.1942+1G>T	ENSP00000370381.3:n.1942+1G>T
ENST00000396577.7:c.1942+1G>T	ENSP00000379822.3:n.1942+1G>T
ENST00000558252.5:n.6065+1G>T
ENST00000558405.5:c.1942+1G>T	ENSP00000453409.1:n.1942+1G>T
ENST00000559641.5:c.1381+1G>T	ENSP00000453230.1:n.1381+1G>T
ENST00000560692.5:n.6081+1G>T
NM_000338.2:c.1942+1G>T	NP_000329.2:n.1942+1G>T
NM_001184832.1:c.1942+1G>T	NP_001171761.1:n.1942+1G>T
XM_005254605.1:c.2038+1G>T	XP_005254662.1:n.2038+1G>T
XM_005254606.1:c.1942+1G>T	XP_005254663.1:n.1942+1G>T
XM_006720656.1:c.2038+1G>T	XP_006720719.1:n.2038+1G>T
XR_931896.1:n.2254+1G>T
XM_005254606.2:c.1942+1G>T	XP_005254663.1:n.1942+1G>T
NM_000338.3:c.1942+1G>T MANE Select	NP_000329.2:n.1942+1G>T
NM_001184832.2:c.1942+1G>T	NP_001171761.1:n.1942+1G>T
NM_001384136.1:c.1942+1G>T	NP_001371065.1:n.1942+1G>T