Canonical Allele Identifier: CA392308597

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48527131C>G (hg19) ; chr15:g.48234934C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48234934C>G , CM000677.2:g.48234934C>G	GRCh38
NC_000015.9:g.48527131C>G , CM000677.1:g.48527131C>G	GRCh37
NC_000015.8:g.46314423C>G	NCBI36
NG_021301.1:g.33634C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1145C>G	ENSP00000508901.1:p.Ser382Cys
ENST00000380993.8:c.1145C>G MANE Select	ENSP00000370381.3:p.Ser382Cys
ENST00000646012.1:c.1283C>G	ENSP00000495813.1:p.Ser428Cys
ENST00000647232.1:c.1145C>G	ENSP00000493875.1:p.Ser382Cys
ENST00000647546.1:c.1145C>G	ENSP00000495332.1:p.Ser382Cys
ENST00000330289.10:c.1145C>G	ENSP00000331550.6:p.Ser382Cys
ENST00000380993.7:c.1145C>G	ENSP00000370381.3:p.Ser382Cys
ENST00000396577.7:c.1145C>G	ENSP00000379822.3:p.Ser382Cys
ENST00000558252.5:n.5268C>G
ENST00000558405.5:c.1145C>G	ENSP00000453409.1:p.Ser382Cys
ENST00000558805.1:c.172C>G
ENST00000559641.5:c.584C>G	ENSP00000453230.1:p.Ser195Cys
ENST00000560692.5:n.5284C>G
NM_000338.2:c.1145C>G	NP_000329.2:p.Ser382Cys
NM_001184832.1:c.1145C>G	NP_001171761.1:p.Ser382Cys
XM_005254605.1:c.1241C>G	XP_005254662.1:p.Ser414Cys
XM_005254606.1:c.1145C>G	XP_005254663.1:p.Ser382Cys
XM_006720656.1:c.1241C>G	XP_006720719.1:p.Ser414Cys
XR_931896.1:n.1457C>G
XM_005254606.2:c.1145C>G	XP_005254663.1:p.Ser382Cys
NM_000338.3:c.1145C>G MANE Select	NP_000329.2:p.Ser382Cys
NM_001184832.2:c.1145C>G	NP_001171761.1:p.Ser382Cys
NM_001384136.1:c.1145C>G	NP_001371065.1:p.Ser382Cys