Canonical Allele Identifier: CA2510867505
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107696326G>T , CM000669.2:g.107696326G>T GRCh38
NC_000007.13:g.107336771G>T , CM000669.1:g.107336771G>T GRCh37
NC_000007.12:g.107124007G>T NCBI36
NG_008489.1:g.40692G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1544+287G>T MANE Select ENSP00000494017.1:n.1544+287G>T
ENST00000644846.1:c.255+287G>T
ENST00000265715.7:c.1544+287G>T ENSP00000265715.3:n.1544+287G>T
ENST00000477350.5:n.391+287G>T
ENST00000480841.5:n.393+287G>T
NM_000441.1:c.1544+287G>T NP_000432.1:n.1544+287G>T
XM_005250425.1:c.1544+287G>T XP_005250482.1:n.1544+287G>T
XM_005250425.2:c.1544+287G>T XP_005250482.1:n.1544+287G>T
XM_017012318.1:c.1466+287G>T XP_016867807.1:n.1466+287G>T
NM_000441.2:c.1544+287G>T MANE Select NP_000432.1:n.1544+287G>T