Canonical Allele Identifier: CA4941745
Community Standard Title: NM_130849.4(SLC39A4):c.301G>A (p.Val101Ile)
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144415983C>T , CM000670.2:g.144415983C>T GRCh38
NC_000008.10:g.145641367C>T , CM000670.1:g.145641367C>T GRCh37
NC_000008.9:g.145612175C>T NCBI36
NG_012234.2:g.5908G>A

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.301G>A MANE Select NP_570901.3:p.Val101Ile
ENST00000301305.8:c.301G>A MANE Select ENSP00000301305.4:p.Val101Ile
NM_001374839.1:c.193-564G>A NP_001361768.1:n.193-564G>A
NM_017767.2:c.226G>A NP_060237.2:p.Val76Ile
NM_017767.3:c.226G>A NP_060237.3:p.Val76Ile
NM_130849.3:c.301G>A NP_570901.2:p.Val101Ile
ENST00000276833.9:c.226G>A ENSP00000276833.5:p.Val76Ile
ENST00000301305.7:c.301G>A ENSP00000301305.3:p.Val101Ile
ENST00000526658.1:c.193-564G>A ENSP00000434512.1:n.193-564G>A
XM_006716599.1:c.301G>A XP_006716662.1:p.Val101Ile
XM_011517153.1:c.193-564G>A XP_011515455.1:n.193-564G>A
XM_024447188.1:c.193-564G>A XP_024302956.1:n.193-564G>A
XM_024447189.1:c.193-564G>A XP_024302957.1:n.193-564G>A