Canonical Allele Identifier: CA457107558
Gene: SLC26A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107420142T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779697T>G , CM000669.2:g.107779697T>G GRCh38
NC_000007.13:g.107420142T>G , CM000669.1:g.107420142T>G GRCh37
NC_000007.12:g.107207378T>G NCBI36
NG_008046.1:g.28537A>C , LRG_683:g.28537A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1378A>C MANE Select ENSP00000345873.5:p.Arg460=
ENST00000340010.9:c.1378A>C ENSP00000345873.5:p.Arg460=
ENST00000379083.7:c.*1169A>C ENSP00000368375.3:n.*1169A>C
NM_000111.2:c.1378A>C , LRG_683t1:c.1378A>C NP_000102.1:p.Arg460=
XM_011515867.1:c.1378A>C XP_011514169.1:p.Arg460=
NM_000111.3:c.1378A>C MANE Select NP_000102.1:p.Arg460=