Canonical Allele Identifier: CA8939060

Gene: SLC39A6

Linked Data

• dbSNP Id: rs374616159
• ExAC: 18:33694425 T / C
• gnomAD v2: 18-33694425-T-C
• gnomAD v4: 18-36114462-T-C
• MyVariant Identifiers: chr18:g.33694425T>C (hg19) ; chr18:g.36114462T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269187.10:c.1478A>G MANE Select	ENSP00000269187.4:p.Tyr493Cys
ENST00000269187.9:c.1478A>G	ENSP00000269187.4:p.Tyr493Cys
ENST00000440549.6:c.653A>G	ENSP00000401139.1:p.Tyr218Cys
ENST00000586829.1:c.179A>G	ENSP00000467724.1:p.Tyr60Cys
ENST00000590986.5:c.1478A>G	ENSP00000465915.1:p.Tyr493Cys
NM_001099406.1:c.653A>G	NP_001092876.1:p.Tyr218Cys
NM_012319.3:c.1478A>G	NP_036451.3:p.Tyr493Cys
XM_011525900.1:c.1478A>G	XP_011524202.1:p.Tyr493Cys
XM_011525901.1:c.1478A>G	XP_011524203.1:p.Tyr493Cys
XM_011525900.2:c.1478A>G	XP_011524202.1:p.Tyr493Cys
XM_011525901.2:c.1478A>G	XP_011524203.1:p.Tyr493Cys
NM_012319.4:c.1478A>G MANE Select	NP_036451.4:p.Tyr493Cys
NM_001099406.2:c.653A>G	NP_001092876.1:p.Tyr218Cys