Canonical Allele Identifier: CA503641040

Gene: SLC39A6

Linked Data

• dbSNP Id: rs1490590201
• gnomAD v2: 18-33694280-A-G
• gnomAD v4: 18-36114317-A-G
• COSMIC: COSM5769163
• MyVariant Identifiers: chr18:g.33694280A>G (hg19) ; chr18:g.36114317A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114317A>G , CM000680.2:g.36114317A>G	GRCh38
NC_000018.9:g.33694280A>G , CM000680.1:g.33694280A>G	GRCh37
NC_000018.8:g.31948278A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269187.10:c.1623T>C MANE Select	ENSP00000269187.4:p.His541=
ENST00000269187.9:c.1623T>C	ENSP00000269187.4:p.His541=
ENST00000440549.6:c.798T>C	ENSP00000401139.1:p.His266=
ENST00000586829.1:c.324T>C	ENSP00000467724.1:p.His108=
ENST00000590986.5:c.1623T>C	ENSP00000465915.1:p.His541=
NM_001099406.1:c.798T>C	NP_001092876.1:p.His266=
NM_012319.3:c.1623T>C	NP_036451.3:p.His541=
XM_011525900.1:c.1623T>C	XP_011524202.1:p.His541=
XM_011525901.1:c.1623T>C	XP_011524203.1:p.His541=
XM_011525900.2:c.1623T>C	XP_011524202.1:p.His541=
XM_011525901.2:c.1623T>C	XP_011524203.1:p.His541=
NM_012319.4:c.1623T>C MANE Select	NP_036451.4:p.His541=
NM_001099406.2:c.798T>C	NP_001092876.1:p.His266=