Canonical Allele Identifier: CA4941767
Community Standard Title: NM_130849.4(SLC39A4):c.213C>T (p.Ala71=)
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144416071G>A , CM000670.2:g.144416071G>A GRCh38
NC_000008.10:g.145641455G>A , CM000670.1:g.145641455G>A GRCh37
NC_000008.9:g.145612263G>A NCBI36
NG_012234.2:g.5820C>T

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.213C>T MANE Select NP_570901.3:p.Ala71=
ENST00000301305.8:c.213C>T MANE Select ENSP00000301305.4:p.Ala71=
NM_001374839.1:c.192+527C>T NP_001361768.1:n.192+527C>T
NM_017767.2:c.138C>T NP_060237.2:p.Ala46=
NM_017767.3:c.138C>T NP_060237.3:p.Ala46=
NM_130849.3:c.213C>T NP_570901.2:p.Ala71=
ENST00000276833.9:c.138C>T ENSP00000276833.5:p.Ala46=
ENST00000301305.7:c.213C>T ENSP00000301305.3:p.Ala71=
ENST00000526658.1:c.192+527C>T ENSP00000434512.1:n.192+527C>T
XM_006716599.1:c.213C>T XP_006716662.1:p.Ala71=
XM_011517153.1:c.192+527C>T XP_011515455.1:n.192+527C>T
XM_024447188.1:c.192+527C>T XP_024302956.1:n.192+527C>T
XM_024447189.1:c.192+527C>T XP_024302957.1:n.192+527C>T