Canonical Allele Identifier: CA16606031
Gene: SLC39A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 390605
ClinVar RCV Id: RCV000426928
dbSNP Id: rs1057523837
MyVariant Identifiers: chr8:g.145640785G>A (hg19) chr8:g.144415401G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144415401G>A , CM000670.2:g.144415401G>A GRCh38
NC_000008.10:g.145640785G>A , CM000670.1:g.145640785G>A GRCh37
NC_000008.9:g.145611593G>A NCBI36
NG_012234.2:g.6490C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301305.8:c.493C>T MANE Select ENSP00000301305.4:p.Gln165Ter
ENST00000276833.9:c.418C>T ENSP00000276833.5:p.Gln140Ter
ENST00000301305.7:c.493C>T ENSP00000301305.3:p.Gln165Ter
ENST00000526658.1:c.211C>T ENSP00000434512.1:p.Gln71Ter
NM_017767.2:c.418C>T NP_060237.2:p.Gln140Ter
NM_130849.3:c.493C>T NP_570901.2:p.Gln165Ter
XM_006716599.1:c.493C>T XP_006716662.1:p.Gln165Ter
XM_011517153.1:c.211C>T XP_011515455.1:p.Gln71Ter
XM_024447188.1:c.211C>T XP_024302956.1:p.Gln71Ter
XM_024447189.1:c.211C>T XP_024302957.1:p.Gln71Ter
NM_001374839.1:c.211C>T NP_001361768.1:p.Gln71Ter
NM_017767.3:c.418C>T NP_060237.3:p.Gln140Ter
NM_130849.4:c.493C>T MANE Select NP_570901.3:p.Gln165Ter
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