Canonical Allele Identifier: CA457107602
Gene: SLC26A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107420203G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779758G>A , CM000669.2:g.107779758G>A GRCh38
NC_000007.13:g.107420203G>A , CM000669.1:g.107420203G>A GRCh37
NC_000007.12:g.107207439G>A NCBI36
NG_008046.1:g.28476C>T , LRG_683:g.28476C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1317C>T MANE Select ENSP00000345873.5:p.Val439=
ENST00000340010.9:c.1317C>T ENSP00000345873.5:p.Val439=
ENST00000379083.7:c.*1108C>T ENSP00000368375.3:n.*1108C>T
NM_000111.2:c.1317C>T , LRG_683t1:c.1317C>T NP_000102.1:p.Val439=
XM_011515867.1:c.1317C>T XP_011514169.1:p.Val439=
NM_000111.3:c.1317C>T MANE Select NP_000102.1:p.Val439=