Canonical Allele Identifier: CA2684468669
Community Standard Title: NM_000441.2(SLC26A4):c.1708-99G>T
Gene: SLC26A4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701002G>T , CM000669.2:g.107701002G>T GRCh38
NC_000007.13:g.107341447G>T , CM000669.1:g.107341447G>T GRCh37
NC_000007.12:g.107128683G>T NCBI36
NG_008489.1:g.45368G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000441.2:c.1708-99G>T MANE Select NP_000432.1:n.1708-99G>T
ENST00000644269.2:c.1708-99G>T MANE Select ENSP00000494017.1:n.1708-99G>T
NM_000441.1:c.1708-99G>T NP_000432.1:n.1708-99G>T
ENST00000265715.7:c.1708-99G>T ENSP00000265715.3:n.1708-99G>T
ENST00000480841.5:n.557-99G>T
ENST00000492030.2:n.91-825G>T
ENST00000644846.1:c.419-99G>T
XM_005250425.1:c.1708-99G>T XP_005250482.1:n.1708-99G>T
XM_005250425.2:c.1708-99G>T XP_005250482.1:n.1708-99G>T
XM_017012318.1:c.1630-99G>T XP_016867807.1:n.1630-99G>T
Search 100 bp 5'
Search 100 bp 3'