Canonical Allele Identifier: CA7546910

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 2906564
• ClinVar RCV Id: RCV003734227
• dbSNP Id: rs541540390
• ExAC: 15:48521492 G / A
• gnomAD v2: 15-48521492-G-A
• gnomAD v3: 15-48229295-G-A
• gnomAD v4: 15-48229295-G-A
• MyVariant Identifiers: chr15:g.48521492G>A (hg19) ; chr15:g.48229295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229295G>A , CM000677.2:g.48229295G>A	GRCh38
NC_000015.9:g.48521492G>A , CM000677.1:g.48521492G>A	GRCh37
NC_000015.8:g.46308784G>A	NCBI36
NG_021301.1:g.27995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.831G>A	ENSP00000508901.1:p.Val277=
ENST00000380993.8:c.831G>A MANE Select	ENSP00000370381.3:p.Val277=
ENST00000646012.1:c.969G>A	ENSP00000495813.1:p.Val323=
ENST00000647232.1:c.831G>A	ENSP00000493875.1:p.Val277=
ENST00000647546.1:c.831G>A	ENSP00000495332.1:p.Val277=
ENST00000330289.10:c.831G>A	ENSP00000331550.6:p.Val277=
ENST00000380993.7:c.831G>A	ENSP00000370381.3:p.Val277=
ENST00000396577.7:c.831G>A	ENSP00000379822.3:p.Val277=
ENST00000558252.5:n.4954G>A
ENST00000558405.5:c.831G>A	ENSP00000453409.1:p.Val277=
ENST00000559641.5:c.270G>A	ENSP00000453230.1:p.Val90=
ENST00000559723.2:n.204G>A
ENST00000560692.5:n.4970G>A
ENST00000561127.5:c.270G>A	ENSP00000453602.2:p.Val90=
NM_000338.2:c.831G>A	NP_000329.2:p.Val277=
NM_001184832.1:c.831G>A	NP_001171761.1:p.Val277=
XM_005254605.1:c.927G>A	XP_005254662.1:p.Val309=
XM_005254606.1:c.831G>A	XP_005254663.1:p.Val277=
XM_006720656.1:c.927G>A	XP_006720719.1:p.Val309=
XR_931896.1:n.1143G>A
XR_932203.1:n.229+661C>T
XR_932204.1:n.222+661C>T
XM_005254606.2:c.831G>A	XP_005254663.1:p.Val277=
XR_001751524.2:n.230+661C>T
XR_001751525.1:n.230+661C>T
XR_002957762.1:n.230+661C>T
XR_932204.3:n.224+661C>T
NM_000338.3:c.831G>A MANE Select	NP_000329.2:p.Val277=
NM_001184832.2:c.831G>A	NP_001171761.1:p.Val277=
NM_001384136.1:c.831G>A	NP_001371065.1:p.Val277=