Canonical Allele Identifier: CA402205283

Gene: SLC39A6

Linked Data

• MyVariant Identifiers: chr18:g.33694243G>C (hg19) ; chr18:g.36114280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114280G>C , CM000680.2:g.36114280G>C	GRCh38
NC_000018.9:g.33694243G>C , CM000680.1:g.33694243G>C	GRCh37
NC_000018.8:g.31948241G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269187.10:c.1660C>G MANE Select	ENSP00000269187.4:p.Leu554Val
ENST00000269187.9:c.1660C>G	ENSP00000269187.4:p.Leu554Val
ENST00000440549.6:c.835C>G	ENSP00000401139.1:p.Leu279Val
ENST00000586829.1:c.361C>G	ENSP00000467724.1:p.Leu121Val
ENST00000590986.5:c.1660C>G	ENSP00000465915.1:p.Leu554Val
NM_001099406.1:c.835C>G	NP_001092876.1:p.Leu279Val
NM_012319.3:c.1660C>G	NP_036451.3:p.Leu554Val
XM_011525900.1:c.1660C>G	XP_011524202.1:p.Leu554Val
XM_011525901.1:c.1660C>G	XP_011524203.1:p.Leu554Val
XM_011525900.2:c.1660C>G	XP_011524202.1:p.Leu554Val
XM_011525901.2:c.1660C>G	XP_011524203.1:p.Leu554Val
NM_012319.4:c.1660C>G MANE Select	NP_036451.4:p.Leu554Val
NM_001099406.2:c.835C>G	NP_001092876.1:p.Leu279Val