Canonical Allele Identifier: CA392305450

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48226482-G-C
• MyVariant Identifiers: chr15:g.48518679G>C (hg19) ; chr15:g.48226482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226482G>C , CM000677.2:g.48226482G>C	GRCh38
NC_000015.9:g.48518679G>C , CM000677.1:g.48518679G>C	GRCh37
NC_000015.8:g.46305971G>C	NCBI36
NG_021301.1:g.25182G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.724+535G>C	ENSP00000508901.1:n.724+535G>C
ENST00000380993.8:c.635G>C MANE Select	ENSP00000370381.3:p.Gly212Ala
ENST00000646012.1:c.773G>C	ENSP00000495813.1:p.Gly258Ala
ENST00000647232.1:c.629-597G>C	ENSP00000493875.1:n.629-597G>C
ENST00000647546.1:c.635G>C	ENSP00000495332.1:p.Gly212Ala
ENST00000330289.10:c.635G>C	ENSP00000331550.6:p.Gly212Ala
ENST00000380993.7:c.635G>C	ENSP00000370381.3:p.Gly212Ala
ENST00000396577.7:c.629-597G>C	ENSP00000379822.3:n.629-597G>C
ENST00000558252.5:n.4155G>C
ENST00000558405.5:c.635G>C	ENSP00000453409.1:p.Gly212Ala
ENST00000559641.5:c.74G>C	ENSP00000453230.1:p.Gly25Ala
ENST00000559723.2:n.97+535G>C
ENST00000560692.5:n.2157G>C
ENST00000561127.5:c.74G>C	ENSP00000453602.2:p.Gly25Ala
NM_000338.2:c.635G>C	NP_000329.2:p.Gly212Ala
NM_001184832.1:c.629-597G>C	NP_001171761.1:n.629-597G>C
XM_005254605.1:c.635G>C	XP_005254662.1:p.Gly212Ala
XM_005254606.1:c.724+535G>C	XP_005254663.1:n.724+535G>C
XM_006720656.1:c.635G>C	XP_006720719.1:p.Gly212Ala
XR_931896.1:n.851G>C
XM_005254606.2:c.724+535G>C	XP_005254663.1:n.724+535G>C
XR_001751524.2:n.364-949C>G
XR_001751525.1:n.364-949C>G
XR_002957762.1:n.364-949C>G
XR_932204.3:n.358-949C>G
NM_000338.3:c.635G>C MANE Select	NP_000329.2:p.Gly212Ala
NM_001184832.2:c.629-597G>C	NP_001171761.1:n.629-597G>C
NM_001384136.1:c.724+535G>C	NP_001371065.1:n.724+535G>C