Canonical Allele Identifier: CA721944107

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1460992820
• gnomAD v3: 16-56894458-CG-C
• gnomAD v4: 16-56894458-CG-C
• MyVariant Identifiers: chr16:g.56928371del (hg19) ; chr16:g.56894459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894462del , CM000678.2:g.56894462del	GRCh38
NC_000016.9:g.56928374del , CM000678.1:g.56928374del	GRCh37
NC_000016.8:g.55485875del	NCBI36
NG_009386.1:g.34256del
NG_009386.2:g.34256del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2522-69del MANE Select	ENSP00000456149.2:n.2522-69del
ENST00000262502.5:c.2519-69del	ENSP00000262502.5:n.2519-69del
ENST00000438926.6:c.2549-69del	ENSP00000402152.2:n.2549-69del
ENST00000563236.5:c.2522-69del	ENSP00000456149.1:n.2522-69del
ENST00000566786.5:c.2546-69del	ENSP00000457552.1:n.2546-69del
NM_000339.2:c.2549-69del	NP_000330.2:n.2549-69del
NM_001126107.1:c.2546-69del	NP_001119579.1:n.2546-69del
NM_001126108.1:c.2522-69del	NP_001119580.1:n.2522-69del
XM_005256119.1:c.2519-69del	XP_005256176.1:n.2519-69del
XM_005256119.2:c.2519-69del	XP_005256176.1:n.2519-69del
NM_000339.3:c.2549-69del	NP_000330.3:n.2549-69del
NM_001126107.2:c.2546-69del	NP_001119579.2:n.2546-69del
NM_001126108.2:c.2522-69del MANE Select	NP_001119580.2:n.2522-69del