Canonical Allele Identifier: CA2224349091

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869761_56869766delinsACGGTG , CM000678.2:g.56869761_56869766delinsACGGTG	GRCh38
NC_000016.9:g.56903673_56903678delinsACGGTG , CM000678.1:g.56903673_56903678delinsACGGTG	GRCh37
NC_000016.8:g.55461174_55461179delinsACGGTG	NCBI36
NG_009386.1:g.9555_9560delinsACGGTG
NG_009386.2:g.9555_9560delinsACGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.538_543delinsACGGTG MANE Select	ENSP00000456149.2:p.Thr180=
ENST00000262502.5:c.535_540delinsACGGTG	ENSP00000262502.5:p.Thr179=
ENST00000438926.6:c.538_543delinsACGGTG	ENSP00000402152.2:p.Thr180=
ENST00000563236.5:c.538_543delinsACGGTG	ENSP00000456149.1:p.Thr180=
ENST00000566786.5:c.535_540delinsACGGTG	ENSP00000457552.1:p.Thr179=
NM_000339.2:c.538_543delinsACGGTG	NP_000330.2:p.Thr180=
NM_001126107.1:c.535_540delinsACGGTG	NP_001119579.1:p.Thr179=
NM_001126108.1:c.538_543delinsACGGTG	NP_001119580.1:p.Thr180=
XM_005256119.1:c.535_540delinsACGGTG	XP_005256176.1:p.Thr179=
XM_005256119.2:c.535_540delinsACGGTG	XP_005256176.1:p.Thr179=
NM_000339.3:c.538_543delinsACGGTG	NP_000330.3:p.Thr180=
NM_001126107.2:c.535_540delinsACGGTG	NP_001119579.2:p.Thr179=
NM_001126108.2:c.538_543delinsACGGTG MANE Select	NP_001119580.2:p.Thr180=