Canonical Allele Identifier: CA368843205
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701858A>C , CM000669.2:g.107701858A>C GRCh38
NC_000007.13:g.107342303A>C , CM000669.1:g.107342303A>C GRCh37
NC_000007.12:g.107129539A>C NCBI36
NG_008489.1:g.46224A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1835A>C MANE Select ENSP00000494017.1:p.Asn612Thr
ENST00000644846.1:c.546A>C
ENST00000265715.7:c.1835A>C ENSP00000265715.3:p.Asn612Thr
ENST00000480841.5:n.684A>C
ENST00000492030.2:n.122A>C
NM_000441.1:c.1835A>C NP_000432.1:p.Asn612Thr
XM_005250425.1:c.1835A>C XP_005250482.1:p.Asn612Thr
XM_005250425.2:c.1835A>C XP_005250482.1:p.Asn612Thr
XM_017012318.1:c.1757A>C XP_016867807.1:p.Asn586Thr
NM_000441.2:c.1835A>C MANE Select NP_000432.1:p.Asn612Thr