Canonical Allele Identifier: CA2633381534

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56904676-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904677_56904679dup , CM000678.2:g.56904677_56904679dup	GRCh38
NC_000016.9:g.56938589_56938591dup , CM000678.1:g.56938589_56938591dup	GRCh37
NC_000016.8:g.55496090_55496092dup	NCBI36
NG_009386.1:g.44471_44473dup
NG_009386.2:g.44471_44473dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2924+215_2924+217dup MANE Select	ENSP00000456149.2:n.2924+215_2924+217dup
ENST00000262502.5:c.2921+215_2921+217dup	ENSP00000262502.5:n.2921+215_2921+217dup
ENST00000438926.6:c.2951+215_2951+217dup	ENSP00000402152.2:n.2951+215_2951+217dup
ENST00000563236.5:c.2924+215_2924+217dup	ENSP00000456149.1:n.2924+215_2924+217dup
ENST00000566786.5:c.2948+215_2948+217dup	ENSP00000457552.1:n.2948+215_2948+217dup
ENST00000569002.1:n.570_572dup
NM_000339.2:c.2951+215_2951+217dup	NP_000330.2:n.2951+215_2951+217dup
NM_001126107.1:c.2948+215_2948+217dup	NP_001119579.1:n.2948+215_2948+217dup
NM_001126108.1:c.2924+215_2924+217dup	NP_001119580.1:n.2924+215_2924+217dup
XM_005256119.1:c.2921+215_2921+217dup	XP_005256176.1:n.2921+215_2921+217dup
XM_005256119.2:c.2921+215_2921+217dup	XP_005256176.1:n.2921+215_2921+217dup
NM_000339.3:c.2951+215_2951+217dup	NP_000330.3:n.2951+215_2951+217dup
NM_001126107.2:c.2948+215_2948+217dup	NP_001119579.2:n.2948+215_2948+217dup
NM_001126108.2:c.2924+215_2924+217dup MANE Select	NP_001119580.2:n.2924+215_2924+217dup