Canonical Allele Identifier: CA8939045

Gene: SLC39A6

Linked Data

• dbSNP Id: rs201536322
• ExAC: 18:33694329 T / G
• gnomAD v2: 18-33694329-T-G
• gnomAD v4: 18-36114366-T-G
• MyVariant Identifiers: chr18:g.33694329T>G (hg19) ; chr18:g.36114366T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114366T>G , CM000680.2:g.36114366T>G	GRCh38
NC_000018.9:g.33694329T>G , CM000680.1:g.33694329T>G	GRCh37
NC_000018.8:g.31948327T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269187.10:c.1574A>C MANE Select	ENSP00000269187.4:p.Gln525Pro
ENST00000269187.9:c.1574A>C	ENSP00000269187.4:p.Gln525Pro
ENST00000440549.6:c.749A>C	ENSP00000401139.1:p.Gln250Pro
ENST00000586829.1:c.275A>C	ENSP00000467724.1:p.Gln92Pro
ENST00000590986.5:c.1574A>C	ENSP00000465915.1:p.Gln525Pro
NM_001099406.1:c.749A>C	NP_001092876.1:p.Gln250Pro
NM_012319.3:c.1574A>C	NP_036451.3:p.Gln525Pro
XM_011525900.1:c.1574A>C	XP_011524202.1:p.Gln525Pro
XM_011525901.1:c.1574A>C	XP_011524203.1:p.Gln525Pro
XM_011525900.2:c.1574A>C	XP_011524202.1:p.Gln525Pro
XM_011525901.2:c.1574A>C	XP_011524203.1:p.Gln525Pro
NM_012319.4:c.1574A>C MANE Select	NP_036451.4:p.Gln525Pro
NM_001099406.2:c.749A>C	NP_001092876.1:p.Gln250Pro