Canonical Allele Identifier: CA2554307572
Gene: SLC26A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701629C>T , CM000669.2:g.107701629C>T GRCh38
NC_000007.13:g.107342074C>T , CM000669.1:g.107342074C>T GRCh37
NC_000007.12:g.107129310C>T NCBI36
NG_008489.1:g.45995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1804-198C>T MANE Select ENSP00000494017.1:n.1804-198C>T
ENST00000644846.1:c.515-198C>T
ENST00000265715.7:c.1804-198C>T ENSP00000265715.3:n.1804-198C>T
ENST00000480841.5:n.653-198C>T
ENST00000492030.2:n.91-198C>T
NM_000441.1:c.1804-198C>T NP_000432.1:n.1804-198C>T
XM_005250425.1:c.1804-198C>T XP_005250482.1:n.1804-198C>T
XM_005250425.2:c.1804-198C>T XP_005250482.1:n.1804-198C>T
XM_017012318.1:c.1726-198C>T XP_016867807.1:n.1726-198C>T
NM_000441.2:c.1804-198C>T MANE Select NP_000432.1:n.1804-198C>T