Canonical Allele Identifier: CA2633375447

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902225-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902225G>T , CM000678.2:g.56902225G>T	GRCh38
NC_000016.9:g.56936137G>T , CM000678.1:g.56936137G>T	GRCh37
NC_000016.8:g.55493638G>T	NCBI36
NG_009386.1:g.42019G>T
NG_009386.2:g.42019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2721-148G>T MANE Select	ENSP00000456149.2:n.2721-148G>T
ENST00000262502.5:c.2718-148G>T	ENSP00000262502.5:n.2718-148G>T
ENST00000438926.6:c.2748-148G>T	ENSP00000402152.2:n.2748-148G>T
ENST00000563236.5:c.2721-148G>T	ENSP00000456149.1:n.2721-148G>T
ENST00000566786.5:c.2745-148G>T	ENSP00000457552.1:n.2745-148G>T
ENST00000569002.1:n.4G>T
NM_000339.2:c.2748-148G>T	NP_000330.2:n.2748-148G>T
NM_001126107.1:c.2745-148G>T	NP_001119579.1:n.2745-148G>T
NM_001126108.1:c.2721-148G>T	NP_001119580.1:n.2721-148G>T
XM_005256119.1:c.2718-148G>T	XP_005256176.1:n.2718-148G>T
XM_005256119.2:c.2718-148G>T	XP_005256176.1:n.2718-148G>T
NM_000339.3:c.2748-148G>T	NP_000330.3:n.2748-148G>T
NM_001126107.2:c.2745-148G>T	NP_001119579.2:n.2745-148G>T
NM_001126108.2:c.2721-148G>T MANE Select	NP_001119580.2:n.2721-148G>T