Canonical Allele Identifier: CA143849

Gene: SLC26A8

Linked Data

• ClinVar Variation Id: 50910
• ClinVar RCV Id: RCV000043625 ; RCV002247429 ; RCV002513638
• dbSNP Id: rs142724470
• ExAC: 6:35918978 C / T
• gnomAD v2: 6-35918978-C-T
• gnomAD v3: 6-35951201-C-T
• gnomAD v4: 6-35951201-C-T
• MyVariant Identifiers: chr6:g.35918978C>T (hg19) ; chr6:g.35951201C>T (hg38)
• PubMed: PMID:23582645

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35951201C>T , CM000668.2:g.35951201C>T	GRCh38
NC_000006.11:g.35918978C>T , CM000668.1:g.35918978C>T	GRCh37
NC_000006.10:g.36026956C>T	NCBI36
NG_033897.1:g.78436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490799.6:c.2434G>A MANE Select	ENSP00000417638.1:p.Glu812Lys
ENST00000355574.6:c.2434G>A	ENSP00000347778.2:p.Glu812Lys
ENST00000394602.6:c.2119G>A	ENSP00000378100.2:p.Glu707Lys
ENST00000465492.1:c.1420G>A
ENST00000466805.5:n.2015G>A
ENST00000490799.5:c.2434G>A	ENSP00000417638.1:p.Glu812Lys
NM_001193476.1:c.2434G>A	NP_001180405.1:p.Glu812Lys
NM_052961.3:c.2434G>A	NP_443193.1:p.Glu812Lys
NM_138718.2:c.2119G>A	NP_619732.2:p.Glu707Lys
XM_011514294.1:c.2356G>A	XP_011512596.1:p.Glu786Lys
XM_011514294.3:c.2356G>A	XP_011512596.1:p.Glu786Lys
XM_017010235.1:c.2434G>A	XP_016865724.1:p.Glu812Lys
NM_001193476.2:c.2434G>A	NP_001180405.1:p.Glu812Lys
NM_052961.4:c.2434G>A MANE Select	NP_443193.1:p.Glu812Lys
NM_138718.3:c.2119G>A	NP_619732.2:p.Glu707Lys