Canonical Allele Identifier: CA368845979
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710153A>T , CM000669.2:g.107710153A>T GRCh38
NC_000007.13:g.107350598A>T , CM000669.1:g.107350598A>T GRCh37
NC_000007.12:g.107137834A>T NCBI36
NG_008489.1:g.54519A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2189A>T MANE Select ENSP00000494017.1:p.Gln730Leu
ENST00000644846.1:c.845A>T
ENST00000265715.7:c.2189A>T ENSP00000265715.3:p.Gln730Leu
ENST00000492030.2:n.377-2A>T
NM_000441.1:c.2189A>T NP_000432.1:p.Gln730Leu
XM_005250425.1:c.2189A>T XP_005250482.1:p.Gln730Leu
XM_005250425.2:c.2189A>T XP_005250482.1:p.Gln730Leu
XM_017012318.1:c.2111A>T XP_016867807.1:p.Gln704Leu
NM_000441.2:c.2189A>T MANE Select NP_000432.1:p.Gln730Leu