Canonical Allele Identifier: CA2633375498

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902278-G-GCTGTGGCAACACTGCCAGCTCCCCGCAGGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902282_56902313dup , CM000678.2:g.56902282_56902313dup	GRCh38
NC_000016.9:g.56936194_56936225dup , CM000678.1:g.56936194_56936225dup	GRCh37
NC_000016.8:g.55493695_55493726dup	NCBI36
NG_009386.1:g.42076_42107dup
NG_009386.2:g.42076_42107dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2721-91_2721-60dup MANE Select	ENSP00000456149.2:n.2721-91_2721-60dup
ENST00000262502.5:c.2718-91_2718-60dup	ENSP00000262502.5:n.2718-91_2718-60dup
ENST00000438926.6:c.2748-91_2748-60dup	ENSP00000402152.2:n.2748-91_2748-60dup
ENST00000563236.5:c.2721-91_2721-60dup	ENSP00000456149.1:n.2721-91_2721-60dup
ENST00000566786.5:c.2745-91_2745-60dup	ENSP00000457552.1:n.2745-91_2745-60dup
ENST00000569002.1:n.61_92dup
NM_000339.2:c.2748-91_2748-60dup	NP_000330.2:n.2748-91_2748-60dup
NM_001126107.1:c.2745-91_2745-60dup	NP_001119579.1:n.2745-91_2745-60dup
NM_001126108.1:c.2721-91_2721-60dup	NP_001119580.1:n.2721-91_2721-60dup
XM_005256119.1:c.2718-91_2718-60dup	XP_005256176.1:n.2718-91_2718-60dup
XM_005256119.2:c.2718-91_2718-60dup	XP_005256176.1:n.2718-91_2718-60dup
NM_000339.3:c.2748-91_2748-60dup	NP_000330.3:n.2748-91_2748-60dup
NM_001126107.2:c.2745-91_2745-60dup	NP_001119579.2:n.2745-91_2745-60dup
NM_001126108.2:c.2721-91_2721-60dup MANE Select	NP_001119580.2:n.2721-91_2721-60dup