Canonical Allele Identifier: CA368841197
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695942G>C , CM000669.2:g.107695942G>C GRCh38
NC_000007.13:g.107336387G>C , CM000669.1:g.107336387G>C GRCh37
NC_000007.12:g.107123623G>C NCBI36
NG_008489.1:g.40308G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1447G>C MANE Select ENSP00000494017.1:p.Val483Leu
ENST00000644846.1:n.158G>C
ENST00000265715.7:c.1447G>C ENSP00000265715.3:p.Val483Leu
ENST00000460748.1:n.550G>C
ENST00000477350.5:n.294G>C
ENST00000480841.5:n.296G>C
ENST00000497446.5:n.462G>C
NM_000441.1:c.1447G>C NP_000432.1:p.Val483Leu
XM_005250425.1:c.1447G>C XP_005250482.1:p.Val483Leu
XM_005250425.2:c.1447G>C XP_005250482.1:p.Val483Leu
XM_017012318.1:c.1369G>C XP_016867807.1:p.Val457Leu
NM_000441.2:c.1447G>C MANE Select NP_000432.1:p.Val483Leu