Canonical Allele Identifier: CA368838628
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689123G>C , CM000669.2:g.107689123G>C GRCh38
NC_000007.13:g.107329568G>C , CM000669.1:g.107329568G>C GRCh37
NC_000007.12:g.107116804G>C NCBI36
NG_008489.1:g.33489G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1072G>C MANE Select ENSP00000494017.1:p.Val358Leu
ENST00000265715.7:c.1072G>C ENSP00000265715.3:p.Val358Leu
NM_000441.1:c.1072G>C NP_000432.1:p.Val358Leu
XM_005250425.1:c.1072G>C XP_005250482.1:p.Val358Leu
XM_006716025.2:c.1072G>C XP_006716088.1:p.Val358Leu
XM_005250425.2:c.1072G>C XP_005250482.1:p.Val358Leu
XM_006716025.3:c.1072G>C XP_006716088.1:p.Val358Leu
XM_017012318.1:c.1072G>C XP_016867807.1:p.Val358Leu
NM_000441.2:c.1072G>C MANE Select NP_000432.1:p.Val358Leu