Canonical Allele Identifier: CA402204966
Gene: SLC39A6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.36114171G>T , CM000680.2:g.36114171G>T GRCh38
NC_000018.9:g.33694134G>T , CM000680.1:g.33694134G>T GRCh37
NC_000018.8:g.31948132G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269187.10:c.1769C>A MANE Select ENSP00000269187.4:p.Ala590Asp
ENST00000269187.9:c.1769C>A ENSP00000269187.4:p.Ala590Asp
ENST00000440549.6:c.944C>A ENSP00000401139.1:p.Ala315Asp
ENST00000586829.1:c.470C>A ENSP00000467724.1:p.Ala157Asp
ENST00000590986.5:c.1769C>A ENSP00000465915.1:p.Ala590Asp
NM_001099406.1:c.944C>A NP_001092876.1:p.Ala315Asp
NM_012319.3:c.1769C>A NP_036451.3:p.Ala590Asp
XM_011525900.1:c.1769C>A XP_011524202.1:p.Ala590Asp
XM_011525901.1:c.1769C>A XP_011524203.1:p.Ala590Asp
XM_011525900.2:c.1769C>A XP_011524202.1:p.Ala590Asp
XM_011525901.2:c.1769C>A XP_011524203.1:p.Ala590Asp
NM_012319.4:c.1769C>A MANE Select NP_036451.4:p.Ala590Asp
NM_001099406.2:c.944C>A NP_001092876.1:p.Ala315Asp