Canonical Allele Identifier: CA457096401
Gene: SLC26A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.107336458G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107696013G>T , CM000669.2:g.107696013G>T GRCh38
NC_000007.13:g.107336458G>T , CM000669.1:g.107336458G>T GRCh37
NC_000007.12:g.107123694G>T NCBI36
NG_008489.1:g.40379G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1518G>T MANE Select ENSP00000494017.1:p.Leu506=
ENST00000644846.1:c.229G>T
ENST00000265715.7:c.1518G>T ENSP00000265715.3:p.Leu506=
ENST00000477350.5:n.365G>T
ENST00000480841.5:n.367G>T
ENST00000497446.5:n.533G>T
NM_000441.1:c.1518G>T NP_000432.1:p.Leu506=
XM_005250425.1:c.1518G>T XP_005250482.1:p.Leu506=
XM_005250425.2:c.1518G>T XP_005250482.1:p.Leu506=
XM_017012318.1:c.1440G>T XP_016867807.1:p.Leu480=
NM_000441.2:c.1518G>T MANE Select NP_000432.1:p.Leu506=