Canonical Allele Identifier: CA368843489
Gene: SLC26A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107342372A>C (hg19) chr7:g.107701927A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701927A>C , CM000669.2:g.107701927A>C GRCh38
NC_000007.13:g.107342372A>C , CM000669.1:g.107342372A>C GRCh37
NC_000007.12:g.107129608A>C NCBI36
NG_008489.1:g.46293A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1904A>C MANE Select ENSP00000494017.1:p.Glu635Ala
ENST00000644846.1:c.615A>C
ENST00000265715.7:c.1904A>C ENSP00000265715.3:p.Glu635Ala
ENST00000492030.2:n.191A>C
NM_000441.1:c.1904A>C NP_000432.1:p.Glu635Ala
XM_005250425.1:c.1904A>C XP_005250482.1:p.Glu635Ala
XM_005250425.2:c.1904A>C XP_005250482.1:p.Glu635Ala
XM_017012318.1:c.1826A>C XP_016867807.1:p.Glu609Ala
NM_000441.2:c.1904A>C MANE Select NP_000432.1:p.Glu635Ala
Search 100 bp 5'
Search 100 bp 3'