Canonical Allele Identifier: CA490016048

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48229271-A-C
• MyVariant Identifiers: chr15:g.48521468A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229271A>C , CM000677.2:g.48229271A>C	GRCh38
NC_000015.9:g.48521468A>C , CM000677.1:g.48521468A>C	GRCh37
NC_000015.8:g.46308760A>C	NCBI36
NG_021301.1:g.27971A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.807A>C	ENSP00000508901.1:p.Ala269=
ENST00000380993.8:c.807A>C MANE Select	ENSP00000370381.3:p.Ala269=
ENST00000646012.1:c.945A>C	ENSP00000495813.1:p.Ala315=
ENST00000647232.1:c.807A>C	ENSP00000493875.1:p.Ala269=
ENST00000647546.1:c.807A>C	ENSP00000495332.1:p.Ala269=
ENST00000330289.10:c.807A>C	ENSP00000331550.6:p.Ala269=
ENST00000380993.7:c.807A>C	ENSP00000370381.3:p.Ala269=
ENST00000396577.7:c.807A>C	ENSP00000379822.3:p.Ala269=
ENST00000558252.5:n.4930A>C
ENST00000558405.5:c.807A>C	ENSP00000453409.1:p.Ala269=
ENST00000559641.5:c.246A>C	ENSP00000453230.1:p.Ala82=
ENST00000559723.2:n.180A>C
ENST00000560692.5:n.4946A>C
ENST00000561127.5:c.246A>C	ENSP00000453602.2:p.Ala82=
NM_000338.2:c.807A>C	NP_000329.2:p.Ala269=
NM_001184832.1:c.807A>C	NP_001171761.1:p.Ala269=
XM_005254605.1:c.903A>C	XP_005254662.1:p.Ala301=
XM_005254606.1:c.807A>C	XP_005254663.1:p.Ala269=
XM_006720656.1:c.903A>C	XP_006720719.1:p.Ala301=
XR_931896.1:n.1119A>C
XR_932203.1:n.229+685T>G
XR_932204.1:n.222+685T>G
XM_005254606.2:c.807A>C	XP_005254663.1:p.Ala269=
XR_001751524.2:n.230+685T>G
XR_001751525.1:n.230+685T>G
XR_002957762.1:n.230+685T>G
XR_932204.3:n.224+685T>G
NM_000338.3:c.807A>C MANE Select	NP_000329.2:p.Ala269=
NM_001184832.2:c.807A>C	NP_001171761.1:p.Ala269=
NM_001384136.1:c.807A>C	NP_001371065.1:p.Ala269=