Canonical Allele Identifier: CA402205743
Gene: SLC39A6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.36114468T>G , CM000680.2:g.36114468T>G GRCh38
NC_000018.9:g.33694431T>G , CM000680.1:g.33694431T>G GRCh37
NC_000018.8:g.31948429T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269187.10:c.1472A>C MANE Select ENSP00000269187.4:p.Glu491Ala
ENST00000269187.9:c.1472A>C ENSP00000269187.4:p.Glu491Ala
ENST00000440549.6:c.647A>C ENSP00000401139.1:p.Glu216Ala
ENST00000586829.1:c.173A>C ENSP00000467724.1:p.Glu58Ala
ENST00000590986.5:c.1472A>C ENSP00000465915.1:p.Glu491Ala
NM_001099406.1:c.647A>C NP_001092876.1:p.Glu216Ala
NM_012319.3:c.1472A>C NP_036451.3:p.Glu491Ala
XM_011525900.1:c.1472A>C XP_011524202.1:p.Glu491Ala
XM_011525901.1:c.1472A>C XP_011524203.1:p.Glu491Ala
XM_011525900.2:c.1472A>C XP_011524202.1:p.Glu491Ala
XM_011525901.2:c.1472A>C XP_011524203.1:p.Glu491Ala
NM_012319.4:c.1472A>C MANE Select NP_036451.4:p.Glu491Ala
NM_001099406.2:c.647A>C NP_001092876.1:p.Glu216Ala