Canonical Allele Identifier: CA368842862

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107341568T>A (hg19) ; chr7:g.107701123T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107701123T>A , CM000669.2:g.107701123T>A	GRCh38
NC_000007.13:g.107341568T>A , CM000669.1:g.107341568T>A	GRCh37
NC_000007.12:g.107128804T>A	NCBI36
NG_008489.1:g.45489T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1730T>A MANE Select	ENSP00000494017.1:p.Val577Glu
ENST00000644846.1:c.441T>A
ENST00000265715.7:c.1730T>A	ENSP00000265715.3:p.Val577Glu
ENST00000480841.5:n.579T>A
ENST00000492030.2:n.91-704T>A
NM_000441.1:c.1730T>A	NP_000432.1:p.Val577Glu
XM_005250425.1:c.1730T>A	XP_005250482.1:p.Val577Glu
XM_005250425.2:c.1730T>A	XP_005250482.1:p.Val577Glu
XM_017012318.1:c.1652T>A	XP_016867807.1:p.Val551Glu
NM_000441.2:c.1730T>A MANE Select	NP_000432.1:p.Val577Glu