Canonical Allele Identifier: CA392305619

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48518750A>T (hg19) ; chr15:g.48226553A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226553A>T , CM000677.2:g.48226553A>T	GRCh38
NC_000015.9:g.48518750A>T , CM000677.1:g.48518750A>T	GRCh37
NC_000015.8:g.46306042A>T	NCBI36
NG_021301.1:g.25253A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+606A>T	ENSP00000508901.1:n.724+606A>T
ENST00000380993.8:c.706A>T MANE Select	ENSP00000370381.3:p.Asn236Tyr
ENST00000646012.1:c.844A>T	ENSP00000495813.1:p.Asn282Tyr
ENST00000647232.1:c.629-526A>T	ENSP00000493875.1:n.629-526A>T
ENST00000647546.1:c.706A>T	ENSP00000495332.1:p.Asn236Tyr
ENST00000330289.10:c.706A>T	ENSP00000331550.6:p.Asn236Tyr
ENST00000380993.7:c.706A>T	ENSP00000370381.3:p.Asn236Tyr
ENST00000396577.7:c.629-526A>T	ENSP00000379822.3:n.629-526A>T
ENST00000558252.5:n.4226A>T
ENST00000558405.5:c.706A>T	ENSP00000453409.1:p.Asn236Tyr
ENST00000559641.5:c.145A>T	ENSP00000453230.1:p.Asn49Tyr
ENST00000559723.2:n.97+606A>T
ENST00000560692.5:n.2228A>T
ENST00000561127.5:c.145A>T	ENSP00000453602.2:p.Asn49Tyr
NM_000338.2:c.706A>T	NP_000329.2:p.Asn236Tyr
NM_001184832.1:c.629-526A>T	NP_001171761.1:n.629-526A>T
XM_005254605.1:c.706A>T	XP_005254662.1:p.Asn236Tyr
XM_005254606.1:c.724+606A>T	XP_005254663.1:n.724+606A>T
XM_006720656.1:c.706A>T	XP_006720719.1:p.Asn236Tyr
XR_931896.1:n.922A>T
XM_005254606.2:c.724+606A>T	XP_005254663.1:n.724+606A>T
XR_001751524.2:n.363+908T>A
XR_001751525.1:n.363+908T>A
XR_002957762.1:n.363+908T>A
XR_932204.3:n.357+908T>A
NM_000338.3:c.706A>T MANE Select	NP_000329.2:p.Asn236Tyr
NM_001184832.2:c.629-526A>T	NP_001171761.1:n.629-526A>T
NM_001384136.1:c.724+606A>T	NP_001371065.1:n.724+606A>T