Canonical Allele Identifier: CA402204956

Gene: SLC39A6

Linked Data

• dbSNP Id: rs984573889
• gnomAD v2: 18-33694131-C-A
• MyVariant Identifiers: chr18:g.33694131C>A (hg19) ; chr18:g.36114168C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114168C>A , CM000680.2:g.36114168C>A	GRCh38
NC_000018.9:g.33694131C>A , CM000680.1:g.33694131C>A	GRCh37
NC_000018.8:g.31948129C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000269187.10:c.1772G>T MANE Select	ENSP00000269187.4:p.Gly591Val
ENST00000269187.9:c.1772G>T	ENSP00000269187.4:p.Gly591Val
ENST00000440549.6:c.947G>T	ENSP00000401139.1:p.Gly316Val
ENST00000586829.1:c.473G>T	ENSP00000467724.1:p.Gly158Val
ENST00000590986.5:c.1772G>T	ENSP00000465915.1:p.Gly591Val
NM_001099406.1:c.947G>T	NP_001092876.1:p.Gly316Val
NM_012319.3:c.1772G>T	NP_036451.3:p.Gly591Val
XM_011525900.1:c.1772G>T	XP_011524202.1:p.Gly591Val
XM_011525901.1:c.1772G>T	XP_011524203.1:p.Gly591Val
XM_011525900.2:c.1772G>T	XP_011524202.1:p.Gly591Val
XM_011525901.2:c.1772G>T	XP_011524203.1:p.Gly591Val
NM_012319.4:c.1772G>T MANE Select	NP_036451.4:p.Gly591Val
NM_001099406.2:c.947G>T	NP_001092876.1:p.Gly316Val