Canonical Allele Identifier: CA4941088
Community Standard Title: NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144412831G>A , CM000670.2:g.144412831G>A GRCh38
NC_000008.10:g.145638215G>A , CM000670.1:g.145638215G>A GRCh37
NC_000008.9:g.145609023G>A NCBI36
NG_012234.2:g.9060C>T

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.1743C>T MANE Select NP_570901.3:p.Val581=
ENST00000301305.8:c.1743C>T MANE Select ENSP00000301305.4:p.Val581=
NM_001280557.1:c.249C>T NP_001267486.1:p.Val83=
NM_001280557.2:c.249C>T NP_001267486.1:p.Val83=
NM_001374839.1:c.1461C>T NP_001361768.1:p.Val487=
NM_017767.2:c.1668C>T NP_060237.2:p.Val556=
NM_017767.3:c.1668C>T NP_060237.3:p.Val556=
NM_130849.3:c.1743C>T NP_570901.2:p.Val581=
ENST00000276833.9:c.1668C>T ENSP00000276833.5:p.Val556=
ENST00000301305.7:c.1743C>T ENSP00000301305.3:p.Val581=
ENST00000527148.5:n.328C>T
ENST00000529462.5:n.342C>T
ENST00000530807.5:n.173C>T
ENST00000531013.1:n.471C>T
ENST00000532718.5:n.343C>T
XM_006716599.1:c.1590C>T XP_006716662.1:p.Val530=
XM_011517153.1:c.1461C>T XP_011515455.1:p.Val487=
XM_024447188.1:c.1461C>T XP_024302956.1:p.Val487=
XM_024447189.1:c.1308C>T XP_024302957.1:p.Val436=