Canonical Allele Identifier: CA368851359

Gene: SLC26A3

Linked Data

• gnomAD v4: 7-107779687-C-A
• MyVariant Identifiers: chr7:g.107420132C>A (hg19) ; chr7:g.107779687C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107779687C>A , CM000669.2:g.107779687C>A	GRCh38
NC_000007.13:g.107420132C>A , CM000669.1:g.107420132C>A	GRCh37
NC_000007.12:g.107207368C>A	NCBI36
NG_008046.1:g.28547G>T , LRG_683:g.28547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340010.10:c.1388G>T MANE Select	ENSP00000345873.5:p.Arg463Leu
ENST00000340010.9:c.1388G>T	ENSP00000345873.5:p.Arg463Leu
ENST00000379083.7:c.*1179G>T	ENSP00000368375.3:n.*1179G>T
NM_000111.2:c.1388G>T , LRG_683t1:c.1388G>T	NP_000102.1:p.Arg463Leu
XM_011515867.1:c.1388G>T	XP_011514169.1:p.Arg463Leu
NM_000111.3:c.1388G>T MANE Select	NP_000102.1:p.Arg463Leu