Canonical Allele Identifier: CA368851329

Gene: SLC26A3

Linked Data

• gnomAD v4: 7-107779675-T-A
• MyVariant Identifiers: chr7:g.107420120T>A (hg19) ; chr7:g.107779675T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107779675T>A , CM000669.2:g.107779675T>A	GRCh38
NC_000007.13:g.107420120T>A , CM000669.1:g.107420120T>A	GRCh37
NC_000007.12:g.107207356T>A	NCBI36
NG_008046.1:g.28559A>T , LRG_683:g.28559A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340010.10:c.1400A>T MANE Select	ENSP00000345873.5:p.Tyr467Phe
ENST00000340010.9:c.1400A>T	ENSP00000345873.5:p.Tyr467Phe
ENST00000379083.7:c.*1191A>T	ENSP00000368375.3:n.*1191A>T
NM_000111.2:c.1400A>T , LRG_683t1:c.1400A>T	NP_000102.1:p.Tyr467Phe
XM_011515867.1:c.1400A>T	XP_011514169.1:p.Tyr467Phe
NM_000111.3:c.1400A>T MANE Select	NP_000102.1:p.Tyr467Phe