Canonical Allele Identifier: CA8939020

Gene: SLC39A6

Linked Data

• dbSNP Id: rs370234181
• ExAC: 18:33694126 C / T
• gnomAD v2: 18-33694126-C-T
• gnomAD v4: 18-36114163-C-T
• MyVariant Identifiers: chr18:g.33694126C>T (hg19) ; chr18:g.36114163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114163C>T , CM000680.2:g.36114163C>T	GRCh38
NC_000018.9:g.33694126C>T , CM000680.1:g.33694126C>T	GRCh37
NC_000018.8:g.31948124C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000269187.10:c.1777G>A MANE Select	ENSP00000269187.4:p.Ala593Thr
ENST00000269187.9:c.1777G>A	ENSP00000269187.4:p.Ala593Thr
ENST00000440549.6:c.952G>A	ENSP00000401139.1:p.Ala318Thr
ENST00000586829.1:c.478G>A	ENSP00000467724.1:p.Ala160Thr
ENST00000590986.5:c.1777G>A	ENSP00000465915.1:p.Ala593Thr
NM_001099406.1:c.952G>A	NP_001092876.1:p.Ala318Thr
NM_012319.3:c.1777G>A	NP_036451.3:p.Ala593Thr
XM_011525900.1:c.1777G>A	XP_011524202.1:p.Ala593Thr
XM_011525901.1:c.1777G>A	XP_011524203.1:p.Ala593Thr
XM_011525900.2:c.1777G>A	XP_011524202.1:p.Ala593Thr
XM_011525901.2:c.1777G>A	XP_011524203.1:p.Ala593Thr
NM_012319.4:c.1777G>A MANE Select	NP_036451.4:p.Ala593Thr
NM_001099406.2:c.952G>A	NP_001092876.1:p.Ala318Thr