Canonical Allele Identifier: CA402205544
Gene: SLC39A6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.36114393T>G , CM000680.2:g.36114393T>G GRCh38
NC_000018.9:g.33694356T>G , CM000680.1:g.33694356T>G GRCh37
NC_000018.8:g.31948354T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269187.10:c.1547A>C MANE Select ENSP00000269187.4:p.Glu516Ala
ENST00000269187.9:c.1547A>C ENSP00000269187.4:p.Glu516Ala
ENST00000440549.6:c.722A>C ENSP00000401139.1:p.Glu241Ala
ENST00000586829.1:c.248A>C ENSP00000467724.1:p.Glu83Ala
ENST00000590986.5:c.1547A>C ENSP00000465915.1:p.Glu516Ala
NM_001099406.1:c.722A>C NP_001092876.1:p.Glu241Ala
NM_012319.3:c.1547A>C NP_036451.3:p.Glu516Ala
XM_011525900.1:c.1547A>C XP_011524202.1:p.Glu516Ala
XM_011525901.1:c.1547A>C XP_011524203.1:p.Glu516Ala
XM_011525900.2:c.1547A>C XP_011524202.1:p.Glu516Ala
XM_011525901.2:c.1547A>C XP_011524203.1:p.Glu516Ala
NM_012319.4:c.1547A>C MANE Select NP_036451.4:p.Glu516Ala
NM_001099406.2:c.722A>C NP_001092876.1:p.Glu241Ala