Canonical Allele Identifier: CA463556319
Community Standard Title: NM_130849.4(SLC39A4):c.885A>G (p.Gln295=)
Gene: SLC39A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144414816T>C , CM000670.2:g.144414816T>C GRCh38
NC_000008.10:g.145640200T>C , CM000670.1:g.145640200T>C GRCh37
NC_000008.9:g.145611008T>C NCBI36
NG_012234.2:g.7075A>G

Transcript Alleles

HGVS Amino-acid Change
NM_130849.4:c.885A>G MANE Select NP_570901.3:p.Gln295=
ENST00000301305.8:c.885A>G MANE Select ENSP00000301305.4:p.Gln295=
NM_001374839.1:c.603A>G NP_001361768.1:p.Gln201=
NM_017767.2:c.810A>G NP_060237.2:p.Gln270=
NM_017767.3:c.810A>G NP_060237.3:p.Gln270=
NM_130849.3:c.885A>G NP_570901.2:p.Gln295=
ENST00000276833.9:c.810A>G ENSP00000276833.5:p.Gln270=
ENST00000301305.7:c.885A>G ENSP00000301305.3:p.Gln295=
XM_006716599.1:c.885A>G XP_006716662.1:p.Gln295=
XM_011517153.1:c.603A>G XP_011515455.1:p.Gln201=
XM_024447188.1:c.603A>G XP_024302956.1:p.Gln201=
XM_024447189.1:c.603A>G XP_024302957.1:p.Gln201=