Canonical Allele Identifier: CA402208759
Community Standard Title: NM_012319.4(SLC39A6):c.1096G>T (p.Val366Phe)
Gene: SLC39A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.36123539C>A , CM000680.2:g.36123539C>A GRCh38
NC_000018.9:g.33703502C>A , CM000680.1:g.33703502C>A GRCh37
NC_000018.8:g.31957500C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_012319.4:c.1096G>T MANE Select NP_036451.4:p.Val366Phe
ENST00000269187.10:c.1096G>T MANE Select ENSP00000269187.4:p.Val366Phe
NM_001099406.1:c.271G>T NP_001092876.1:p.Val91Phe
NM_001099406.2:c.271G>T NP_001092876.1:p.Val91Phe
NM_012319.3:c.1096G>T NP_036451.3:p.Val366Phe
ENST00000269187.9:c.1096G>T ENSP00000269187.4:p.Val366Phe
ENST00000440549.6:c.271G>T ENSP00000401139.1:p.Val91Phe
ENST00000590986.5:c.1096G>T ENSP00000465915.1:p.Val366Phe
XM_011525900.1:c.1096G>T XP_011524202.1:p.Val366Phe
XM_011525900.2:c.1096G>T XP_011524202.1:p.Val366Phe
XM_011525901.1:c.1096G>T XP_011524203.1:p.Val366Phe
XM_011525901.2:c.1096G>T XP_011524203.1:p.Val366Phe