Canonical Allele Identifier: CA402205717
Gene: SLC39A6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.36114462T>A , CM000680.2:g.36114462T>A GRCh38
NC_000018.9:g.33694425T>A , CM000680.1:g.33694425T>A GRCh37
NC_000018.8:g.31948423T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269187.10:c.1478A>T MANE Select ENSP00000269187.4:p.Tyr493Phe
ENST00000269187.9:c.1478A>T ENSP00000269187.4:p.Tyr493Phe
ENST00000440549.6:c.653A>T ENSP00000401139.1:p.Tyr218Phe
ENST00000586829.1:c.179A>T ENSP00000467724.1:p.Tyr60Phe
ENST00000590986.5:c.1478A>T ENSP00000465915.1:p.Tyr493Phe
NM_001099406.1:c.653A>T NP_001092876.1:p.Tyr218Phe
NM_012319.3:c.1478A>T NP_036451.3:p.Tyr493Phe
XM_011525900.1:c.1478A>T XP_011524202.1:p.Tyr493Phe
XM_011525901.1:c.1478A>T XP_011524203.1:p.Tyr493Phe
XM_011525900.2:c.1478A>T XP_011524202.1:p.Tyr493Phe
XM_011525901.2:c.1478A>T XP_011524203.1:p.Tyr493Phe
NM_012319.4:c.1478A>T MANE Select NP_036451.4:p.Tyr493Phe
NM_001099406.2:c.653A>T NP_001092876.1:p.Tyr218Phe