Canonical Allele Identifier: CA2628314574

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48226248-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226248G>C , CM000677.2:g.48226248G>C	GRCh38
NC_000015.9:g.48518445G>C , CM000677.1:g.48518445G>C	GRCh37
NC_000015.8:g.46305737G>C	NCBI36
NG_021301.1:g.24948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+301G>C	ENSP00000508901.1:n.724+301G>C
ENST00000380993.8:c.629-228G>C MANE Select	ENSP00000370381.3:n.629-228G>C
ENST00000646012.1:c.767-228G>C	ENSP00000495813.1:n.767-228G>C
ENST00000647232.1:c.629-831G>C	ENSP00000493875.1:n.629-831G>C
ENST00000647546.1:c.629-228G>C	ENSP00000495332.1:n.629-228G>C
ENST00000330289.10:c.629-228G>C	ENSP00000331550.6:n.629-228G>C
ENST00000380993.7:c.629-228G>C	ENSP00000370381.3:n.629-228G>C
ENST00000396577.7:c.629-831G>C	ENSP00000379822.3:n.629-831G>C
ENST00000558252.5:n.3921G>C
ENST00000558405.5:c.629-228G>C	ENSP00000453409.1:n.629-228G>C
ENST00000559641.5:c.68-228G>C	ENSP00000453230.1:n.68-228G>C
ENST00000559723.2:n.97+301G>C
ENST00000560692.5:n.1923G>C
ENST00000561127.5:c.68-228G>C	ENSP00000453602.2:n.68-228G>C
NM_000338.2:c.629-228G>C	NP_000329.2:n.629-228G>C
NM_001184832.1:c.629-831G>C	NP_001171761.1:n.629-831G>C
XM_005254605.1:c.629-228G>C	XP_005254662.1:n.629-228G>C
XM_005254606.1:c.724+301G>C	XP_005254663.1:n.724+301G>C
XM_006720656.1:c.629-228G>C	XP_006720719.1:n.629-228G>C
XR_931896.1:n.845-228G>C
XM_005254606.2:c.724+301G>C	XP_005254663.1:n.724+301G>C
XR_001751524.2:n.364-715C>G
XR_001751525.1:n.364-715C>G
XR_002957762.1:n.364-715C>G
XR_932204.3:n.358-715C>G
NM_000338.3:c.629-228G>C MANE Select	NP_000329.2:n.629-228G>C
NM_001184832.2:c.629-831G>C	NP_001171761.1:n.629-831G>C
NM_001384136.1:c.724+301G>C	NP_001371065.1:n.724+301G>C