Canonical Allele Identifier: CA402205602

Gene: SLC39A6

Linked Data

• dbSNP Id: rs1181511986
• gnomAD v2: 18-33694381-G-A
• gnomAD v4: 18-36114418-G-A
• MyVariant Identifiers: chr18:g.33694381G>A (hg19) ; chr18:g.36114418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114418G>A , CM000680.2:g.36114418G>A	GRCh38
NC_000018.9:g.33694381G>A , CM000680.1:g.33694381G>A	GRCh37
NC_000018.8:g.31948379G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269187.10:c.1522C>T MANE Select	ENSP00000269187.4:p.Gln508Ter
ENST00000269187.9:c.1522C>T	ENSP00000269187.4:p.Gln508Ter
ENST00000440549.6:c.697C>T	ENSP00000401139.1:p.Gln233Ter
ENST00000586829.1:c.223C>T	ENSP00000467724.1:p.Gln75Ter
ENST00000590986.5:c.1522C>T	ENSP00000465915.1:p.Gln508Ter
NM_001099406.1:c.697C>T	NP_001092876.1:p.Gln233Ter
NM_012319.3:c.1522C>T	NP_036451.3:p.Gln508Ter
XM_011525900.1:c.1522C>T	XP_011524202.1:p.Gln508Ter
XM_011525901.1:c.1522C>T	XP_011524203.1:p.Gln508Ter
XM_011525900.2:c.1522C>T	XP_011524202.1:p.Gln508Ter
XM_011525901.2:c.1522C>T	XP_011524203.1:p.Gln508Ter
NM_012319.4:c.1522C>T MANE Select	NP_036451.4:p.Gln508Ter
NM_001099406.2:c.697C>T	NP_001092876.1:p.Gln233Ter