Canonical Allele Identifier: CA721949211

Gene: SLC12A3

Linked Data

• dbSNP Id: rs1351634713
• gnomAD v4: 16-56902320-C-CA
• MyVariant Identifiers: chr16:g.56936232_56936233insA (hg19) ; chr16:g.56902320_56902321insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902320_56902321insA , CM000678.2:g.56902320_56902321insA	GRCh38
NC_000016.9:g.56936232_56936233insA , CM000678.1:g.56936232_56936233insA	GRCh37
NC_000016.8:g.55493733_55493734insA	NCBI36
NG_009386.1:g.42114_42115insA
NG_009386.2:g.42114_42115insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2721-53_2721-52insA MANE Select	ENSP00000456149.2:n.2721-53_2721-52insA
ENST00000262502.5:c.2718-53_2718-52insA	ENSP00000262502.5:n.2718-53_2718-52insA
ENST00000438926.6:c.2748-53_2748-52insA	ENSP00000402152.2:n.2748-53_2748-52insA
ENST00000563236.5:c.2721-53_2721-52insA	ENSP00000456149.1:n.2721-53_2721-52insA
ENST00000566786.5:c.2745-53_2745-52insA	ENSP00000457552.1:n.2745-53_2745-52insA
ENST00000569002.1:n.99_100insA
NM_000339.2:c.2748-53_2748-52insA	NP_000330.2:n.2748-53_2748-52insA
NM_001126107.1:c.2745-53_2745-52insA	NP_001119579.1:n.2745-53_2745-52insA
NM_001126108.1:c.2721-53_2721-52insA	NP_001119580.1:n.2721-53_2721-52insA
XM_005256119.1:c.2718-53_2718-52insA	XP_005256176.1:n.2718-53_2718-52insA
XM_005256119.2:c.2718-53_2718-52insA	XP_005256176.1:n.2718-53_2718-52insA
NM_000339.3:c.2748-53_2748-52insA	NP_000330.3:n.2748-53_2748-52insA
NM_001126107.2:c.2745-53_2745-52insA	NP_001119579.2:n.2745-53_2745-52insA
NM_001126108.2:c.2721-53_2721-52insA MANE Select	NP_001119580.2:n.2721-53_2721-52insA