Canonical Allele Identifier: CA2576002273

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894477G>C , CM000678.2:g.56894477G>C	GRCh38
NC_000016.9:g.56928389G>C , CM000678.1:g.56928389G>C	GRCh37
NC_000016.8:g.55485890G>C	NCBI36
NG_009386.1:g.34271G>C
NG_009386.2:g.34271G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2522-54G>C MANE Select	ENSP00000456149.2:n.2522-54G>C
ENST00000262502.5:c.2519-54G>C	ENSP00000262502.5:n.2519-54G>C
ENST00000438926.6:c.2549-54G>C	ENSP00000402152.2:n.2549-54G>C
ENST00000563236.5:c.2522-54G>C	ENSP00000456149.1:n.2522-54G>C
ENST00000566786.5:c.2546-54G>C	ENSP00000457552.1:n.2546-54G>C
NM_000339.2:c.2549-54G>C	NP_000330.2:n.2549-54G>C
NM_001126107.1:c.2546-54G>C	NP_001119579.1:n.2546-54G>C
NM_001126108.1:c.2522-54G>C	NP_001119580.1:n.2522-54G>C
XM_005256119.1:c.2519-54G>C	XP_005256176.1:n.2519-54G>C
XM_005256119.2:c.2519-54G>C	XP_005256176.1:n.2519-54G>C
NM_000339.3:c.2549-54G>C	NP_000330.3:n.2549-54G>C
NM_001126107.2:c.2546-54G>C	NP_001119579.2:n.2546-54G>C
NM_001126108.2:c.2522-54G>C MANE Select	NP_001119580.2:n.2522-54G>C