Canonical Allele Identifier: CA402204929

Gene: SLC39A6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36114157G>C , CM000680.2:g.36114157G>C	GRCh38
NC_000018.9:g.33694120G>C , CM000680.1:g.33694120G>C	GRCh37
NC_000018.8:g.31948118G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_012319.4:c.1783C>G MANE Select	NP_036451.4:p.Leu595Val
ENST00000269187.10:c.1783C>G MANE Select	ENSP00000269187.4:p.Leu595Val
NM_001099406.1:c.958C>G	NP_001092876.1:p.Leu320Val
NM_001099406.2:c.958C>G	NP_001092876.1:p.Leu320Val
NM_012319.3:c.1783C>G	NP_036451.3:p.Leu595Val
ENST00000269187.9:c.1783C>G	ENSP00000269187.4:p.Leu595Val
ENST00000440549.6:c.958C>G	ENSP00000401139.1:p.Leu320Val
ENST00000586829.1:c.484C>G	ENSP00000467724.1:p.Leu162Val
ENST00000590986.5:c.1783C>G	ENSP00000465915.1:p.Leu595Val
XM_011525900.1:c.1783C>G	XP_011524202.1:p.Leu595Val
XM_011525900.2:c.1783C>G	XP_011524202.1:p.Leu595Val
XM_011525901.1:c.1783C>G	XP_011524203.1:p.Leu595Val
XM_011525901.2:c.1783C>G	XP_011524203.1:p.Leu595Val