Canonical Allele Identifier: CA73986224

Gene: SLC26A6

Linked Data

• dbSNP Id: rs184187143
• gnomAD v4: 3-48628699-C-A
• MyVariant Identifiers: chr3:g.48666132C>A (hg19) ; chr3:g.48628699C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48628699C>A , CM000665.2:g.48628699C>A	GRCh38
NC_000003.11:g.48666132C>A , CM000665.1:g.48666132C>A	GRCh37
NC_000003.10:g.48641136C>A	NCBI36
NG_047183.1:g.11795G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395550.7:c.1615G>T MANE Select	ENSP00000378920.2:p.Gly539Trp
ENST00000307364.10:c.*1293G>T	ENSP00000307089.6:n.*1293G>T
ENST00000337000.12:c.1294G>T	ENSP00000337648.8:p.Gly432Trp
ENST00000358747.10:c.1552G>T	ENSP00000351597.6:p.Gly518Trp
ENST00000383733.7:c.1615G>T	ENSP00000373239.3:p.Gly539Trp
ENST00000395550.6:c.1615G>T	ENSP00000378920.2:p.Gly539Trp
ENST00000420764.6:c.1615G>T	ENSP00000404684.2:p.Gly539Trp
ENST00000455886.6:c.1507G>T	ENSP00000401066.2:p.Gly503Trp
ENST00000462009.6:n.130G>T
ENST00000469693.5:n.124G>T
ENST00000480524.5:n.1803G>T
ENST00000489483.5:n.3549-158G>T
ENST00000496469.1:n.884G>T
ENST00000614797.4:c.1654G>T	ENSP00000483669.1:p.Gly552Trp
NM_001040454.1:c.1552G>T	NP_001035544.1:p.Gly518Trp
NM_001281732.1:c.1507G>T	NP_001268661.1:p.Gly503Trp
NM_001281733.1:c.1294G>T	NP_001268662.1:p.Gly432Trp
NM_022911.2:c.1615G>T	NP_075062.2:p.Gly539Trp
NM_134263.2:c.1615G>T	NP_599025.2:p.Gly539Trp
NM_134426.2:c.1615G>T	NP_602298.2:p.Gly539Trp
NM_022911.3:c.1615G>T MANE Select	NP_075062.2:p.Gly539Trp
NM_001281732.2:c.1507G>T	NP_001268661.1:p.Gly503Trp
NM_001281733.2:c.1294G>T	NP_001268662.1:p.Gly432Trp
NM_134263.3:c.1615G>T	NP_599025.2:p.Gly539Trp
NM_134426.3:c.1615G>T	NP_602298.2:p.Gly539Trp