Canonical Allele Identifier: CA392305591

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48518739C>G (hg19) ; chr15:g.48226542C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226542C>G , CM000677.2:g.48226542C>G	GRCh38
NC_000015.9:g.48518739C>G , CM000677.1:g.48518739C>G	GRCh37
NC_000015.8:g.46306031C>G	NCBI36
NG_021301.1:g.25242C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+595C>G	ENSP00000508901.1:n.724+595C>G
ENST00000380993.8:c.695C>G MANE Select	ENSP00000370381.3:p.Ala232Gly
ENST00000646012.1:c.833C>G	ENSP00000495813.1:p.Ala278Gly
ENST00000647232.1:c.629-537C>G	ENSP00000493875.1:n.629-537C>G
ENST00000647546.1:c.695C>G	ENSP00000495332.1:p.Ala232Gly
ENST00000330289.10:c.695C>G	ENSP00000331550.6:p.Ala232Gly
ENST00000380993.7:c.695C>G	ENSP00000370381.3:p.Ala232Gly
ENST00000396577.7:c.629-537C>G	ENSP00000379822.3:n.629-537C>G
ENST00000558252.5:n.4215C>G
ENST00000558405.5:c.695C>G	ENSP00000453409.1:p.Ala232Gly
ENST00000559641.5:c.134C>G	ENSP00000453230.1:p.Ala45Gly
ENST00000559723.2:n.97+595C>G
ENST00000560692.5:n.2217C>G
ENST00000561127.5:c.134C>G	ENSP00000453602.2:p.Ala45Gly
NM_000338.2:c.695C>G	NP_000329.2:p.Ala232Gly
NM_001184832.1:c.629-537C>G	NP_001171761.1:n.629-537C>G
XM_005254605.1:c.695C>G	XP_005254662.1:p.Ala232Gly
XM_005254606.1:c.724+595C>G	XP_005254663.1:n.724+595C>G
XM_006720656.1:c.695C>G	XP_006720719.1:p.Ala232Gly
XR_931896.1:n.911C>G
XM_005254606.2:c.724+595C>G	XP_005254663.1:n.724+595C>G
XR_001751524.2:n.363+919G>C
XR_001751525.1:n.363+919G>C
XR_002957762.1:n.363+919G>C
XR_932204.3:n.357+919G>C
NM_000338.3:c.695C>G MANE Select	NP_000329.2:p.Ala232Gly
NM_001184832.2:c.629-537C>G	NP_001171761.1:n.629-537C>G
NM_001384136.1:c.724+595C>G	NP_001371065.1:n.724+595C>G