Canonical Allele Identifier: CA10630513

Gene: SLC39A4

Linked Data

• ClinVar Variation Id: 362230
• ClinVar RCV Id: RCV000290781 ; RCV000976332
• dbSNP Id: rs886062745
• gnomAD v4: 8-144413328-C-T
• MyVariant Identifiers: chr8:g.145638712C>T (hg19) ; chr8:g.144413328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144413328C>T , CM000670.2:g.144413328C>T	GRCh38
NC_000008.10:g.145638712C>T , CM000670.1:g.145638712C>T	GRCh37
NC_000008.9:g.145609520C>T	NCBI36
NG_012234.2:g.8563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301305.8:c.1536G>A MANE Select	ENSP00000301305.4:p.Gly512=
ENST00000276833.9:c.1461G>A	ENSP00000276833.5:p.Gly487=
ENST00000301305.7:c.1536G>A	ENSP00000301305.3:p.Gly512=
ENST00000527148.5:n.121G>A
ENST00000529462.5:n.135G>A
ENST00000530807.5:n.57+185G>A
ENST00000531013.1:n.264G>A
ENST00000532718.5:n.136G>A
NM_001280557.1:c.42G>A	NP_001267486.1:p.Gly14=
NM_017767.2:c.1461G>A	NP_060237.2:p.Gly487=
NM_130849.3:c.1536G>A	NP_570901.2:p.Gly512=
XM_006716599.1:c.1474+185G>A	XP_006716662.1:n.1474+185G>A
XM_011517153.1:c.1254G>A	XP_011515455.1:p.Gly418=
XM_024447188.1:c.1254G>A	XP_024302956.1:p.Gly418=
XM_024447189.1:c.1192+185G>A	XP_024302957.1:n.1192+185G>A
NM_001280557.2:c.42G>A	NP_001267486.1:p.Gly14=
NM_001374839.1:c.1254G>A	NP_001361768.1:p.Gly418=
NM_017767.3:c.1461G>A	NP_060237.3:p.Gly487=
NM_130849.4:c.1536G>A MANE Select	NP_570901.3:p.Gly512=