Canonical Allele Identifier: CA402205436

Gene: SLC39A6

Linked Data

• dbSNP Id: rs1437319429
• gnomAD v2: 18-33694308-A-G
• gnomAD v4: 18-36114345-A-G
• MyVariant Identifiers: chr18:g.33694308A>G (hg19) ; chr18:g.36114345A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114345A>G , CM000680.2:g.36114345A>G	GRCh38
NC_000018.9:g.33694308A>G , CM000680.1:g.33694308A>G	GRCh37
NC_000018.8:g.31948306A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269187.10:c.1595T>C MANE Select	ENSP00000269187.4:p.Val532Ala
ENST00000269187.9:c.1595T>C	ENSP00000269187.4:p.Val532Ala
ENST00000440549.6:c.770T>C	ENSP00000401139.1:p.Val257Ala
ENST00000586829.1:c.296T>C	ENSP00000467724.1:p.Val99Ala
ENST00000590986.5:c.1595T>C	ENSP00000465915.1:p.Val532Ala
NM_001099406.1:c.770T>C	NP_001092876.1:p.Val257Ala
NM_012319.3:c.1595T>C	NP_036451.3:p.Val532Ala
XM_011525900.1:c.1595T>C	XP_011524202.1:p.Val532Ala
XM_011525901.1:c.1595T>C	XP_011524203.1:p.Val532Ala
XM_011525900.2:c.1595T>C	XP_011524202.1:p.Val532Ala
XM_011525901.2:c.1595T>C	XP_011524203.1:p.Val532Ala
NM_012319.4:c.1595T>C MANE Select	NP_036451.4:p.Val532Ala
NM_001099406.2:c.770T>C	NP_001092876.1:p.Val257Ala