Canonical Allele Identifier: CA457107549
Gene: SLC26A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107420122T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779677T>C , CM000669.2:g.107779677T>C GRCh38
NC_000007.13:g.107420122T>C , CM000669.1:g.107420122T>C GRCh37
NC_000007.12:g.107207358T>C NCBI36
NG_008046.1:g.28557A>G , LRG_683:g.28557A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1398A>G MANE Select ENSP00000345873.5:p.Lys466=
ENST00000340010.9:c.1398A>G ENSP00000345873.5:p.Lys466=
ENST00000379083.7:c.*1189A>G ENSP00000368375.3:n.*1189A>G
NM_000111.2:c.1398A>G , LRG_683t1:c.1398A>G NP_000102.1:p.Lys466=
XM_011515867.1:c.1398A>G XP_011514169.1:p.Lys466=
NM_000111.3:c.1398A>G MANE Select NP_000102.1:p.Lys466=