Canonical Allele Identifier: CA1732787401

Gene: SLC26A3

Linked Data

• dbSNP Id: rs80191685

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107779596C>G , CM000669.2:g.107779596C>G	GRCh38
NC_000007.13:g.107420041C>G , CM000669.1:g.107420041C>G	GRCh37
NC_000007.12:g.107207277C>G	NCBI36
NG_008046.1:g.28638G>C , LRG_683:g.28638G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340010.10:c.1407+72G>C MANE Select	ENSP00000345873.5:n.1407+72G>C
ENST00000340010.9:c.1407+72G>C	ENSP00000345873.5:n.1407+72G>C
ENST00000379083.7:c.*1198+72G>C	ENSP00000368375.3:n.*1198+72G>C
NM_000111.2:c.1407+72G>C , LRG_683t1:c.1407+72G>C	NP_000102.1:n.1407+72G>C
XM_011515867.1:c.1407+72G>C	XP_011514169.1:n.1407+72G>C
NM_000111.3:c.1407+72G>C MANE Select	NP_000102.1:n.1407+72G>C