Canonical Allele Identifier: CA392304846

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48220940T>A , CM000677.2:g.48220940T>A	GRCh38
NC_000015.9:g.48513137T>A , CM000677.1:g.48513137T>A	GRCh37
NC_000015.8:g.46300429T>A	NCBI36
NG_021301.1:g.19640T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000338.3:c.572T>A MANE Select	NP_000329.2:p.Ile191Asn
ENST00000380993.8:c.572T>A MANE Select	ENSP00000370381.3:p.Ile191Asn
NM_000338.2:c.572T>A	NP_000329.2:p.Ile191Asn
NM_001184832.1:c.572T>A	NP_001171761.1:p.Ile191Asn
NM_001184832.2:c.572T>A	NP_001171761.1:p.Ile191Asn
NM_001384136.1:c.572T>A	NP_001371065.1:p.Ile191Asn
ENST00000330289.10:c.572T>A	ENSP00000331550.6:p.Ile191Asn
ENST00000380993.7:c.572T>A	ENSP00000370381.3:p.Ile191Asn
ENST00000396577.7:c.572T>A	ENSP00000379822.3:p.Ile191Asn
ENST00000558405.5:c.572T>A	ENSP00000453409.1:p.Ile191Asn
ENST00000559641.5:c.11T>A	ENSP00000453230.1:p.Ile4Asn
ENST00000561031.1:c.572T>A	ENSP00000454178.1:p.Ile191Asn
ENST00000561127.5:c.11T>A	ENSP00000453602.2:p.Ile4Asn
ENST00000646012.1:c.710T>A	ENSP00000495813.1:p.Ile237Asn
ENST00000647232.1:c.572T>A	ENSP00000493875.1:p.Ile191Asn
ENST00000647546.1:c.572T>A	ENSP00000495332.1:p.Ile191Asn
ENST00000686073.1:c.572T>A	ENSP00000508901.1:p.Ile191Asn
XM_005254605.1:c.572T>A	XP_005254662.1:p.Ile191Asn
XM_005254606.1:c.572T>A	XP_005254663.1:p.Ile191Asn
XM_005254606.2:c.572T>A	XP_005254663.1:p.Ile191Asn
XM_006720656.1:c.572T>A	XP_006720719.1:p.Ile191Asn
XR_002957762.1:n.1734+3223A>T
XR_931896.1:n.788T>A