Canonical Allele Identifier: CA10642052

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 316250
• ClinVar RCV Id: RCV000357059 ; RCV001690055
• dbSNP Id: rs35787656
• gnomAD v2: 15-48499781-A-G
• gnomAD v3: 15-48207584-A-G
• gnomAD v4: 15-48207584-A-G
• MyVariant Identifiers: chr15:g.48499781A>G (hg19) ; chr15:g.48207584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48207584A>G , CM000677.2:g.48207584A>G	GRCh38
NC_000015.9:g.48499781A>G , CM000677.1:g.48499781A>G	GRCh37
NC_000015.8:g.46287073A>G	NCBI36
NG_021301.1:g.6284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.-136A>G	ENSP00000508901.1:n.-136A>G
ENST00000380993.8:c.-136A>G MANE Select	ENSP00000370381.3:n.-136A>G
ENST00000646012.1:c.-136A>G	ENSP00000495813.1:n.-136A>G
ENST00000647232.1:c.-136A>G	ENSP00000493875.1:n.-136A>G
ENST00000647546.1:c.-136A>G	ENSP00000495332.1:n.-136A>G
ENST00000330289.10:c.-136A>G	ENSP00000331550.6:n.-136A>G
ENST00000380993.7:c.-136A>G	ENSP00000370381.3:n.-136A>G
ENST00000396577.7:c.-136A>G	ENSP00000379822.3:n.-136A>G
ENST00000559641.5:c.-141-13050A>G	ENSP00000453230.1:n.-141-13050A>G
ENST00000561127.5:c.-133-13050A>G	ENSP00000453602.2:n.-133-13050A>G
NM_000338.2:c.-136A>G	NP_000329.2:n.-136A>G
NM_001184832.1:c.-136A>G	NP_001171761.1:n.-136A>G
XM_005254605.1:c.-136A>G	XP_005254662.1:n.-136A>G
XM_005254606.1:c.-136A>G	XP_005254663.1:n.-136A>G
XM_006720656.1:c.-136A>G	XP_006720719.1:n.-136A>G
XR_931896.1:n.81A>G
XM_005254606.2:c.-136A>G	XP_005254663.1:n.-136A>G
NM_000338.3:c.-136A>G MANE Select	NP_000329.2:n.-136A>G
NM_001184832.2:c.-136A>G	NP_001171761.1:n.-136A>G
NM_001384136.1:c.-136A>G	NP_001371065.1:n.-136A>G