Canonical Allele Identifier: CA831178832

Gene: SLC26A3

Linked Data

• dbSNP Id: rs1384791329
• gnomAD v3: 7-107779539-T-A
• gnomAD v4: 7-107779539-T-A
• MyVariant Identifiers: chr7:g.107419984T>A (hg19) ; chr7:g.107779539T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107779539T>A , CM000669.2:g.107779539T>A	GRCh38
NC_000007.13:g.107419984T>A , CM000669.1:g.107419984T>A	GRCh37
NC_000007.12:g.107207220T>A	NCBI36
NG_008046.1:g.28695A>T , LRG_683:g.28695A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.1407+129A>T MANE Select	ENSP00000345873.5:n.1407+129A>T
ENST00000340010.9:c.1407+129A>T	ENSP00000345873.5:n.1407+129A>T
ENST00000379083.7:c.*1198+129A>T	ENSP00000368375.3:n.*1198+129A>T
NM_000111.2:c.1407+129A>T , LRG_683t1:c.1407+129A>T	NP_000102.1:n.1407+129A>T
XM_011515867.1:c.1407+129A>T	XP_011514169.1:n.1407+129A>T
NM_000111.3:c.1407+129A>T MANE Select	NP_000102.1:n.1407+129A>T