Canonical Allele Identifier: CA490016003

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48229253-C-A
• COSMIC: COSM3816217 ; COSM3816218
• MyVariant Identifiers: chr15:g.48521450C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229253C>A , CM000677.2:g.48229253C>A	GRCh38
NC_000015.9:g.48521450C>A , CM000677.1:g.48521450C>A	GRCh37
NC_000015.8:g.46308742C>A	NCBI36
NG_021301.1:g.27953C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.789C>A	ENSP00000508901.1:p.Ile263=
ENST00000380993.8:c.789C>A MANE Select	ENSP00000370381.3:p.Ile263=
ENST00000646012.1:c.927C>A	ENSP00000495813.1:p.Ile309=
ENST00000647232.1:c.789C>A	ENSP00000493875.1:p.Ile263=
ENST00000647546.1:c.789C>A	ENSP00000495332.1:p.Ile263=
ENST00000330289.10:c.789C>A	ENSP00000331550.6:p.Ile263=
ENST00000380993.7:c.789C>A	ENSP00000370381.3:p.Ile263=
ENST00000396577.7:c.789C>A	ENSP00000379822.3:p.Ile263=
ENST00000558252.5:n.4912C>A
ENST00000558405.5:c.789C>A	ENSP00000453409.1:p.Ile263=
ENST00000559641.5:c.228C>A	ENSP00000453230.1:p.Ile76=
ENST00000559723.2:n.162C>A
ENST00000560692.5:n.4928C>A
ENST00000561127.5:c.228C>A	ENSP00000453602.2:p.Ile76=
NM_000338.2:c.789C>A	NP_000329.2:p.Ile263=
NM_001184832.1:c.789C>A	NP_001171761.1:p.Ile263=
XM_005254605.1:c.885C>A	XP_005254662.1:p.Ile295=
XM_005254606.1:c.789C>A	XP_005254663.1:p.Ile263=
XM_006720656.1:c.885C>A	XP_006720719.1:p.Ile295=
XR_931896.1:n.1101C>A
XR_932203.1:n.229+703G>T
XR_932204.1:n.222+703G>T
XM_005254606.2:c.789C>A	XP_005254663.1:p.Ile263=
XR_001751524.2:n.230+703G>T
XR_001751525.1:n.230+703G>T
XR_002957762.1:n.230+703G>T
XR_932204.3:n.224+703G>T
NM_000338.3:c.789C>A MANE Select	NP_000329.2:p.Ile263=
NM_001184832.2:c.789C>A	NP_001171761.1:p.Ile263=
NM_001384136.1:c.789C>A	NP_001371065.1:p.Ile263=