Canonical Allele Identifier: CA216183

Gene: SLC26A6

Linked Data

• ClinVar Variation Id: 64457
• ClinVar RCV Id: RCV000054644
• dbSNP Id: rs387907498
• MyVariant Identifiers: chr3:g.48669381C>G (hg19) ; chr3:g.48631948C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48631948C>G , CM000665.2:g.48631948C>G	GRCh38
NC_000003.11:g.48669381C>G , CM000665.1:g.48669381C>G	GRCh37
NC_000003.10:g.48644385C>G	NCBI36
NG_047183.1:g.8546G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395550.7:c.682G>C MANE Select	ENSP00000378920.2:p.Val228Leu
ENST00000307364.10:c.*360G>C	ENSP00000307089.6:n.*360G>C
ENST00000337000.12:c.434-151G>C	ENSP00000337648.8:n.434-151G>C
ENST00000358747.10:c.619G>C	ENSP00000351597.6:p.Val207Leu
ENST00000383733.7:c.682G>C	ENSP00000373239.3:p.Val228Leu
ENST00000395550.6:c.682G>C	ENSP00000378920.2:p.Val228Leu
ENST00000414944.1:c.138G>C
ENST00000420764.6:c.682G>C	ENSP00000404684.2:p.Val228Leu
ENST00000421649.5:c.220G>C	ENSP00000389922.1:p.Val74Leu
ENST00000431213.5:c.431G>C	ENSP00000387532.1:n.431G>C
ENST00000431739.5:c.530G>C	ENSP00000401813.1:p.Arg177Pro
ENST00000444531.5:c.190G>C	ENSP00000404607.1:p.Val64Leu
ENST00000455886.6:c.578G>C	ENSP00000401066.2:p.Arg193Pro
ENST00000480524.5:n.870G>C
ENST00000482282.5:n.808G>C
ENST00000489483.5:n.2128G>C
ENST00000614797.4:c.721G>C	ENSP00000483669.1:p.Val241Leu
NM_001040454.1:c.619G>C	NP_001035544.1:p.Val207Leu
NM_001281732.1:c.578G>C	NP_001268661.1:p.Arg193Pro
NM_001281733.1:c.434-151G>C	NP_001268662.1:n.434-151G>C
NM_022911.2:c.682G>C	NP_075062.2:p.Val228Leu
NM_134263.2:c.682G>C	NP_599025.2:p.Val228Leu
NM_134426.2:c.682G>C	NP_602298.2:p.Val228Leu
NM_022911.3:c.682G>C MANE Select	NP_075062.2:p.Val228Leu
NM_001281732.2:c.578G>C	NP_001268661.1:p.Arg193Pro
NM_001281733.2:c.434-151G>C	NP_001268662.1:n.434-151G>C
NM_134263.3:c.682G>C	NP_599025.2:p.Val228Leu
NM_134426.3:c.682G>C	NP_602298.2:p.Val228Leu